Pub Date : 2024-07-29DOI: 10.1186/s43042-024-00556-9
Chen Huang, Wenwen Zhang
We described a case of abdominal aortic aneurysm complicated by type B thoracic aortic dissection, in whom molecular analysis revealed a pathogenic TGFBR1 missense mutation. A 36-year-old woman was admitted to our hospital with sudden onset of back pain. Computed tomography angiogram demonstrated descending aortic dissection extending into the abdominal aorta aneurysm. Whole-exome sequencing and subsequent Sanger sequencing confirmed a pathogenic mutation in the TGFBRI gene (NM_004612.4: c.605C > T; p.Ala202Val). She refused to receive surgery and died one month later. To our knowledge, this is the first documented case of the TGFBR1 gene mutation who suffered from abdominal aortic aneurysm complicated by descending thoracic aortic dissection. Her rapid death underscores the importance of timely intervention in TGFBR1 mutation-positive patients.
{"title":"Abdominal aortic aneurysm complicated by descending thoracic aortic dissection in a patient with TGFBR1 mutation","authors":"Chen Huang, Wenwen Zhang","doi":"10.1186/s43042-024-00556-9","DOIUrl":"https://doi.org/10.1186/s43042-024-00556-9","url":null,"abstract":"We described a case of abdominal aortic aneurysm complicated by type B thoracic aortic dissection, in whom molecular analysis revealed a pathogenic TGFBR1 missense mutation. A 36-year-old woman was admitted to our hospital with sudden onset of back pain. Computed tomography angiogram demonstrated descending aortic dissection extending into the abdominal aorta aneurysm. Whole-exome sequencing and subsequent Sanger sequencing confirmed a pathogenic mutation in the TGFBRI gene (NM_004612.4: c.605C > T; p.Ala202Val). She refused to receive surgery and died one month later. To our knowledge, this is the first documented case of the TGFBR1 gene mutation who suffered from abdominal aortic aneurysm complicated by descending thoracic aortic dissection. Her rapid death underscores the importance of timely intervention in TGFBR1 mutation-positive patients.","PeriodicalId":39112,"journal":{"name":"Egyptian Journal of Medical Human Genetics","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-07-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141866644","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-07-27DOI: 10.1186/s43042-024-00558-7
Maged Mostafa, Marwa Zohdy, Maha Abdelsalam
Alopecia areata (AA) is a non-scarring hair loss condition that usually affects the scalp. The exact pathogenesis is poorly understood; however, multiple factors like genetics, environmental, psychological, and immunological factors may have a role. The purpose of this study was to look into possible links between the functional interleukin-4 (IL-4) gene intron 3 variable number of tandem repeats (VNTR) and TNF-(rs1799964) gene polymorphism and AA susceptibility. This case–control study consisted of 79 unrelated patients and 156 age- and sex-matched healthy individuals as a control group. The Severity of Alopecia Tool was used to assess the extent of hair loss from the scalp. Polymerase chain reaction (PCR) with specific primers was used to determine IL-4 gene 70-bp VNTR polymorphism while polymerase chain reaction-restriction fragment length polymorphism (PCR–RFLP) was used to investigate TNF-α (rs1799964) gene polymorphism. None of the selected polymorphisms for both genotypes and alleles had statistical significance when patients and controls were compared with each other (p-values for IL-4 VNTR were 0.11, 0.74, 0.052 and 0.27 and for TNF-α polymorphism was 0.71, 0.43, 0.65 and 0.55, respectively, for codominant, dominant, recessive and overdominant models of inheritance, respectively). Furthermore, the same results were retrieved when the genotypes were compared with the patient’s clinical and demographic data (p-value > 0.05). The findings indicate that IL-4 VNTR intron 3 and TNF-α (rs1799964) gene polymorphisms are not linked to the development of AA in the Egyptian population.
{"title":"The evaluation of IL-4 VNTR intron 3 and TNF-α (rs1799964) gene polymorphisms in Egyptian patients with alopecia areata: a case–control study","authors":"Maged Mostafa, Marwa Zohdy, Maha Abdelsalam","doi":"10.1186/s43042-024-00558-7","DOIUrl":"https://doi.org/10.1186/s43042-024-00558-7","url":null,"abstract":"Alopecia areata (AA) is a non-scarring hair loss condition that usually affects the scalp. The exact pathogenesis is poorly understood; however, multiple factors like genetics, environmental, psychological, and immunological factors may have a role. The purpose of this study was to look into possible links between the functional interleukin-4 (IL-4) gene intron 3 variable number of tandem repeats (VNTR) and TNF-(rs1799964) gene polymorphism and AA susceptibility. This case–control study consisted of 79 unrelated patients and 156 age- and sex-matched healthy individuals as a control group. The Severity of Alopecia Tool was used to assess the extent of hair loss from the scalp. Polymerase chain reaction (PCR) with specific primers was used to determine IL-4 gene 70-bp VNTR polymorphism while polymerase chain reaction-restriction fragment length polymorphism (PCR–RFLP) was used to investigate TNF-α (rs1799964) gene polymorphism. None of the selected polymorphisms for both genotypes and alleles had statistical significance when patients and controls were compared with each other (p-values for IL-4 VNTR were 0.11, 0.74, 0.052 and 0.27 and for TNF-α polymorphism was 0.71, 0.43, 0.65 and 0.55, respectively, for codominant, dominant, recessive and overdominant models of inheritance, respectively). Furthermore, the same results were retrieved when the genotypes were compared with the patient’s clinical and demographic data (p-value > 0.05). The findings indicate that IL-4 VNTR intron 3 and TNF-α (rs1799964) gene polymorphisms are not linked to the development of AA in the Egyptian population.","PeriodicalId":39112,"journal":{"name":"Egyptian Journal of Medical Human Genetics","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-07-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141776356","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-07-27DOI: 10.1186/s43042-024-00559-6
M. J. Nishanth, S. Sai Karthick, Shanker Jha
Suicide is a leading cause of death globally. Identifying individuals at higher suicidal risk is a key to suicide prevention. Patients with comorbid psychiatric disorders, especially major depressive disorder (MDD), are known to be highly prone to suicidality. However, the behavioural manifestations of MDD and suicidality are distinct, indicating potentially unique molecular underpinnings, of which our current understanding is limited. Delineating the unique and shared molecular etiologies of MDD and suicidality would be imperative to devise effective treatment strategies for suicidal behaviour. To this end, we analysed the existing literature pertaining to transcriptomic alterations in brain samples of individuals who died from MDD or by suicide. Subsequently, biological processes associated with the differentially expressed genes (DEGs) were identified. In addition, we also examined the transcriptional regulators (TRs) potentially driving cortical gene expression changes in MDD and suicidality. A set of immunological genes was found to be commonly upregulated in MDD but downregulated in suicide. Actin and cytoskeleton organization genes also had a similar trend. In addition, MDD-upregulated and suicide-downregulated genes were found to have overrepresented target sites for 40 TRs associated with epigenetic as well as polymerase-mediated regulation. Any variations in the levels of these TRs could be of behavioural consequence in MDD and suicidality. A clear understanding of the condition-specific neurotranscriptomic differences in MDD and suicidality would be valuable in order to delineate the biological mechanisms underlying these conditions. Importantly, it would provide insights into more effective treatment strategies for suicidality among individuals with or without MDD. However, we have yet to determine the molecular basis of suicidality in the context of MDD and as a standalone mental condition. In this regard, the present findings would be of scientific and clinical relevance and could stimulate further research.
{"title":"Computational analysis of the divergent neurotranscriptomic signatures of major depression and suicidality","authors":"M. J. Nishanth, S. Sai Karthick, Shanker Jha","doi":"10.1186/s43042-024-00559-6","DOIUrl":"https://doi.org/10.1186/s43042-024-00559-6","url":null,"abstract":"Suicide is a leading cause of death globally. Identifying individuals at higher suicidal risk is a key to suicide prevention. Patients with comorbid psychiatric disorders, especially major depressive disorder (MDD), are known to be highly prone to suicidality. However, the behavioural manifestations of MDD and suicidality are distinct, indicating potentially unique molecular underpinnings, of which our current understanding is limited. Delineating the unique and shared molecular etiologies of MDD and suicidality would be imperative to devise effective treatment strategies for suicidal behaviour. To this end, we analysed the existing literature pertaining to transcriptomic alterations in brain samples of individuals who died from MDD or by suicide. Subsequently, biological processes associated with the differentially expressed genes (DEGs) were identified. In addition, we also examined the transcriptional regulators (TRs) potentially driving cortical gene expression changes in MDD and suicidality. A set of immunological genes was found to be commonly upregulated in MDD but downregulated in suicide. Actin and cytoskeleton organization genes also had a similar trend. In addition, MDD-upregulated and suicide-downregulated genes were found to have overrepresented target sites for 40 TRs associated with epigenetic as well as polymerase-mediated regulation. Any variations in the levels of these TRs could be of behavioural consequence in MDD and suicidality. A clear understanding of the condition-specific neurotranscriptomic differences in MDD and suicidality would be valuable in order to delineate the biological mechanisms underlying these conditions. Importantly, it would provide insights into more effective treatment strategies for suicidality among individuals with or without MDD. However, we have yet to determine the molecular basis of suicidality in the context of MDD and as a standalone mental condition. In this regard, the present findings would be of scientific and clinical relevance and could stimulate further research.","PeriodicalId":39112,"journal":{"name":"Egyptian Journal of Medical Human Genetics","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-07-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141776348","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Correction: Egyptian Journal of Medical Human Genetics (2024) 25:56https://doi.org/10.1186/s43042-024-00526-1
Following publication of the original article [1], the author informed that authors Khushneet Kaur and Shreya Taluja were incorrectly affiliated.
The incorrect affiliation is:
Khushneet Kaur—Department of Zoology, Kirori Mal College University of Delhi, Delhi 110007, India
Shreya Taluja—Department of Virology and Immunology, Amity University, Noida, India
The correct affiliation is:
Khushneet Kaur—Department of Virology and Immunology, Amity University, Noida, India
Shreya Taluja—Department of Biochemistry, Sri Venkateswara College, University of Delhi, Delhi, India
The original article has been corrected.
Jayaraj P et al (2024) Egypt J Med Human Genet 25:56. https://doi.org/10.1186/s43042-024-00526-1
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Authors and Affiliations
Department of Zoology, Sri Venkateswara College, University of Delhi, Delhi, India
Perumal Jayaraj
Department of Zoology, University of Delhi, Delhi, 110007, India
Tanisha Bhimwal
Department of Virology and Immunology, Amity University, Noida, India
Khushneet Kaur & Kritika Gupta
Department of Biochemistry, Sri Venkateswara College, University of Delhi, Delhi, India
Shreya Taluja
Department of Zoology, Kirori Mal College University of Delhi, Delhi, 110007, India
Anjali Priyadarshani
Authors
Perumal JayarajView author publications
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Tanisha BhimwalView author publications
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Khushneet KaurView author publications
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Kritika GuptaView author publications
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Shreya TalujaView author publications
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Anjali PriyadarshaniView author publications
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Corresponding author
Correspondence to Anjali Priyadarshani.
Publisher's Note
Springer Nature remains neutral with regard to jurisdictio
更正：Egyptian Journal of Medical Human Genetics (2024) 25:56 https://doi.org/10.1186/s43042-024-00526-1Following 原文[1]发表时，作者告知作者 Khushneet Kaur 和 Shreya Taluja 的隶属关系有误。错误的隶属关系是：Khushneet Kaur--德里大学 Kirori Mal 学院动物学系，德里 110007，印度Shreya Taluja--阿米提大学病毒学和免疫学系，诺伊达，印度正确的隶属关系是：Khushneet Kaur--阿米提大学病毒学和免疫学系，诺伊达，印度Shreya Taluja--德里大学 Sri Venkateswara 学院生物化学系，德里，印度原文已更正。Jayaraj P et al (2024) Egypt J Med Human Genet 25:56. https://doi.org/10.1186/s43042-024-00526-1Article Google Scholar Download references作者及工作单位印度德里，德里大学，Sri Venkateswara 学院动物学系Perumal JayarajDepartment of Zoology, University of Delhi, Delhi, 110007, IndiaTanisha BhimwalDepartment of Virology and Immunology, Amity University, Noida, IndiaKhushneet Kaur &；Kritika GuptaDepartment of Biochemistry, Sri Venkateswara College, University of Delhi, Delhi, IndiaShreya TalujaDepartment of Zoology, Kirori Mal College University of Delhi, Delhi, 110007、印度Anjali Priyadarshani作者Perumal Jayaraj查看作者发表的论文您也可以在PubMed Google Scholar中搜索该作者Tanisha Bhimwal查看作者发表的论文您也可以在PubMed Google Scholar中搜索该作者Khushneet Kaur查看作者发表的论文您也可以在PubMed Google Scholar中搜索该作者Kritika Gupta查看作者发表的论文您也可以在PubMed Google Scholar中搜索该作者Khushneet Kaur查看作者发表的论文作者发表作品您也可以在 PubMed Google ScholarShreya TalujaView 作者发表作品您也可以在 PubMed Google ScholarAnjali PriyadarshaniView 作者发表作品您也可以在 PubMed Google ScholarCorresponding authorCorrespondence to Anjali Priyadarshani.开放获取本文采用知识共享署名 4.0 国际许可协议进行许可，该协议允许以任何媒介或格式使用、共享、改编、分发和复制，只要您适当注明原作者和来源，提供知识共享许可协议的链接，并说明是否进行了修改。本文中的图片或其他第三方材料均包含在文章的知识共享许可协议中，除非在材料的署名栏中另有说明。如果材料未包含在文章的知识共享许可协议中，且您打算使用的材料不符合法律规定或超出许可使用范围，则您需要直接从版权所有者处获得许可。要查看该许可的副本，请访问 http://creativecommons.org/licenses/by/4.0/.Reprints and permissionsCite this articleJayaraj, P., Bhimwal, T., Kaur, K. et al. Correction：用生物信息学方法揭示皮肤黑色素瘤和葡萄膜黑色素瘤的共同基因和分子通路。Egypt J Med Hum Genet 25, 82 (2024). https://doi.org/10.1186/s43042-024-00554-xDownload citationPublished: 24 July 2024DOI: https://doi.org/10.1186/s43042-024-00554-xShare this articleAnyone you share the following link with will be able to read this content:Get shareable linkSorry, a shareable link is not currently available for this article.Copy to clipboard Provided by the Springer Nature SharedIt content-sharing initiative
{"title":"Correction: A bioinformatics approach to reveal common genes and molecular pathways shared by cutaneous melanoma and uveal melanoma","authors":"Perumal Jayaraj, Tanisha Bhimwal, Khushneet Kaur, Kritika Gupta, Shreya Taluja, Anjali Priyadarshani","doi":"10.1186/s43042-024-00554-x","DOIUrl":"https://doi.org/10.1186/s43042-024-00554-x","url":null,"abstract":"<p><b>Correction: Egyptian Journal of Medical Human Genetics (2024) 25:56</b> <b>https://doi.org/10.1186/s43042-024-00526-1</b></p><p>Following publication of the original article [1], the author informed that authors Khushneet Kaur and Shreya Taluja were incorrectly affiliated.</p><p>The incorrect affiliation is:</p><p>Khushneet Kaur—Department of Zoology, Kirori Mal College University of Delhi, Delhi 110007, India</p><p>Shreya Taluja—Department of Virology and Immunology, Amity University, Noida, India</p><p>The correct affiliation is:</p><p>Khushneet Kaur—Department of Virology and Immunology, Amity University, Noida, India</p><p>Shreya Taluja—Department of Biochemistry, Sri Venkateswara College, University of Delhi, Delhi, India</p><p>The original article has been corrected.</p><ol data-track-component=\"outbound reference\" data-track-context=\"references section\"><li data-counter=\"1.\"><p>Jayaraj P et al (2024) Egypt J Med Human Genet 25:56. https://doi.org/10.1186/s43042-024-00526-1</p><p>Article Google Scholar </p></li></ol><p>Download references<svg aria-hidden=\"true\" focusable=\"false\" height=\"16\" role=\"img\" width=\"16\"><use xlink:href=\"#icon-eds-i-download-medium\" xmlns:xlink=\"http://www.w3.org/1999/xlink\"></use></svg></p><h3>Authors and Affiliations</h3><ol><li><p>Department of Zoology, Sri Venkateswara College, University of Delhi, Delhi, India</p><p>Perumal Jayaraj</p></li><li><p>Department of Zoology, University of Delhi, Delhi, 110007, India</p><p>Tanisha Bhimwal</p></li><li><p>Department of Virology and Immunology, Amity University, Noida, India</p><p>Khushneet Kaur & Kritika Gupta</p></li><li><p>Department of Biochemistry, Sri Venkateswara College, University of Delhi, Delhi, India</p><p>Shreya Taluja</p></li><li><p>Department of Zoology, Kirori Mal College University of Delhi, Delhi, 110007, India</p><p>Anjali Priyadarshani</p></li></ol><span>Authors</span><ol><li><span>Perumal Jayaraj</span>View author publications<p>You can also search for this author in <span>PubMed<span> </span>Google Scholar</span></p></li><li><span>Tanisha Bhimwal</span>View author publications<p>You can also search for this author in <span>PubMed<span> </span>Google Scholar</span></p></li><li><span>Khushneet Kaur</span>View author publications<p>You can also search for this author in <span>PubMed<span> </span>Google Scholar</span></p></li><li><span>Kritika Gupta</span>View author publications<p>You can also search for this author in <span>PubMed<span> </span>Google Scholar</span></p></li><li><span>Shreya Taluja</span>View author publications<p>You can also search for this author in <span>PubMed<span> </span>Google Scholar</span></p></li><li><span>Anjali Priyadarshani</span>View author publications<p>You can also search for this author in <span>PubMed<span> </span>Google Scholar</span></p></li></ol><h3>Corresponding author</h3><p>Correspondence to Anjali Priyadarshani.</p><h3>Publisher's Note</h3><p>Springer Nature remains neutral with regard to jurisdictio","PeriodicalId":39112,"journal":{"name":"Egyptian Journal of Medical Human Genetics","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-07-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141776357","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-07-24DOI: 10.1186/s43042-024-00555-w
Yahya Jaber Al-ardawy, Ali Hmood Al-Saadi, Mahmoud A. Alkindy, Ammar M. Al-Lsawi, Maksad A. Fadheel
A member of the Interleukin-1 superfamily of cytokines, interleukin-18 (IL-18) is essential to the etiology and progression of inflammatory bowel disease (IBD), a chronic inflammatory illness that affects the digestive system. This study investigated the possible association between two genetic variations, IL-18 rs187238 and IL-18 rs1946518, and IBD in Iraqi patients. We evaluated the association of two SNPs of the IL-18 gene at rs187238 and rs1946518 in 54 IBD patients with 19 Crohn’s disease (CD), 35 ulcerative colitis (UC), and 46 healthy controls using PCR-RFLP and PCR-AS techniques for detecting IL-18 rs187238 and IL-18 rs1946518, respectively, by extracting genomic DNA from blood samples. Our findings indicated no statistically significant variations between the IL-18 rs187238 genotypes and incidences of CD and UC (P = 0.189 and 0.59, respectively). However, the allele frequency showed a significant difference with CD (P = 0.049) but did not show a significant association with UC (P = 0.887). There was no significant association between the genotype and allele frequency of IL-18 rs1946518C/A and CD risk (P = 0.171 and 0.053, respectively). However, there was a significant association between the genotype and allele frequency of IL-18 rs1946518C/A and the risk of developing UC (P = 0.028 and 0.002, respectively). The study revealed statistically significant distinctions between the genetic and allelic frequencies of IL-18 rs1946518 and the probability of developing UC. Nonetheless, there were no significant distinctions between them and CD. According to the research, there were no major differences between IL-18 rs187238 and the two diseases. The frequency of the C allele is connected to CD.
{"title":"Study of the relationship between genetic variants of IL-18 and the occurrence of inflammatory bowel disease","authors":"Yahya Jaber Al-ardawy, Ali Hmood Al-Saadi, Mahmoud A. Alkindy, Ammar M. Al-Lsawi, Maksad A. Fadheel","doi":"10.1186/s43042-024-00555-w","DOIUrl":"https://doi.org/10.1186/s43042-024-00555-w","url":null,"abstract":"A member of the Interleukin-1 superfamily of cytokines, interleukin-18 (IL-18) is essential to the etiology and progression of inflammatory bowel disease (IBD), a chronic inflammatory illness that affects the digestive system. This study investigated the possible association between two genetic variations, IL-18 rs187238 and IL-18 rs1946518, and IBD in Iraqi patients. We evaluated the association of two SNPs of the IL-18 gene at rs187238 and rs1946518 in 54 IBD patients with 19 Crohn’s disease (CD), 35 ulcerative colitis (UC), and 46 healthy controls using PCR-RFLP and PCR-AS techniques for detecting IL-18 rs187238 and IL-18 rs1946518, respectively, by extracting genomic DNA from blood samples. Our findings indicated no statistically significant variations between the IL-18 rs187238 genotypes and incidences of CD and UC (P = 0.189 and 0.59, respectively). However, the allele frequency showed a significant difference with CD (P = 0.049) but did not show a significant association with UC (P = 0.887). There was no significant association between the genotype and allele frequency of IL-18 rs1946518C/A and CD risk (P = 0.171 and 0.053, respectively). However, there was a significant association between the genotype and allele frequency of IL-18 rs1946518C/A and the risk of developing UC (P = 0.028 and 0.002, respectively). The study revealed statistically significant distinctions between the genetic and allelic frequencies of IL-18 rs1946518 and the probability of developing UC. Nonetheless, there were no significant distinctions between them and CD. According to the research, there were no major differences between IL-18 rs187238 and the two diseases. The frequency of the C allele is connected to CD.","PeriodicalId":39112,"journal":{"name":"Egyptian Journal of Medical Human Genetics","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-07-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141776218","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-07-08DOI: 10.1186/s43042-024-00546-x
Galena W. Zareef, Ibrahim M. Moatmed, Nourhan W. Shehata, Mohamed N. Saad, Olfat G. Shaker
Diabetes mellitus is a disease that may result from interaction between environmental factors and a strong genetic component. The current study is aimed at exploring three single nucleotide polymorphisms to identify the associated ones with type 2 diabetes in the Egyptian society. The studied single nucleotide polymorphisms (rs10096097 in GOAT, rs6740584 in CREB1, and rs62521874 in MAFA) were examined via genotyping cases (n = 98) and irrelevant healthy subjects (n = 82). Associations were checked using dominant, recessive, genotypic, allelic, and Cochran–Armitage trend models. By comparing diabetic patients with controls, rs6740584 was associated with type 2 diabetes by employing all used models except the recessive model. Rs10096097 was connected with type 2 diabetes using the genotypic association, Cochran–Armitage trend test, and recessive model and not any other model. Rs62521874 was not linked with type 2 diabetes in all models. Moreover, haplotype association for rs10096097 and rs62521874 was conducted as these two single nucleotide polymorphisms were located on the same chromosome. The haplotype pattern rs10096097:G—rs62521874:A was identified as a biomarker for type 2 diabetes susceptibility in the Egyptian community. The GOAT and CREB1 polymorphisms showed susceptibility to type 2 diabetes. Moreover, MAFA had no role in the disease except through the haplotype with GOAT polymorphism.
{"title":"Genetic association study for three single nucleotide polymorphisms related to type 2 diabetes in Egyptian population","authors":"Galena W. Zareef, Ibrahim M. Moatmed, Nourhan W. Shehata, Mohamed N. Saad, Olfat G. Shaker","doi":"10.1186/s43042-024-00546-x","DOIUrl":"https://doi.org/10.1186/s43042-024-00546-x","url":null,"abstract":"Diabetes mellitus is a disease that may result from interaction between environmental factors and a strong genetic component. The current study is aimed at exploring three single nucleotide polymorphisms to identify the associated ones with type 2 diabetes in the Egyptian society. The studied single nucleotide polymorphisms (rs10096097 in GOAT, rs6740584 in CREB1, and rs62521874 in MAFA) were examined via genotyping cases (n = 98) and irrelevant healthy subjects (n = 82). Associations were checked using dominant, recessive, genotypic, allelic, and Cochran–Armitage trend models. By comparing diabetic patients with controls, rs6740584 was associated with type 2 diabetes by employing all used models except the recessive model. Rs10096097 was connected with type 2 diabetes using the genotypic association, Cochran–Armitage trend test, and recessive model and not any other model. Rs62521874 was not linked with type 2 diabetes in all models. Moreover, haplotype association for rs10096097 and rs62521874 was conducted as these two single nucleotide polymorphisms were located on the same chromosome. The haplotype pattern rs10096097:G—rs62521874:A was identified as a biomarker for type 2 diabetes susceptibility in the Egyptian community. The GOAT and CREB1 polymorphisms showed susceptibility to type 2 diabetes. Moreover, MAFA had no role in the disease except through the haplotype with GOAT polymorphism.","PeriodicalId":39112,"journal":{"name":"Egyptian Journal of Medical Human Genetics","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-07-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141574251","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-07-08DOI: 10.1186/s43042-024-00549-8
Fazliana Ismail, Sarni Mat Junit, Lee Ching Chin, Jaime Jacqueline Jayapalan, Visvaraja Subrayan
Despite extensive research efforts, understanding the precise causes and molecular underpinnings of age-related macular degeneration (AMD) remains elusive. Exploring different populations becomes crucial to establish conclusive insights into the role of genetic factors in AMD. This study aimed to investigate the association between the well-documented major risk alleles in the HTRA1, ARMS2 and CFH genes with AMD in the Malaysian multi-ethnic population. A total of 205 subjects were enrolled in this study, 103 were diagnosed with AMD while 102 represented the control subjects. Genomic DNA was extracted from peripheral blood mononuclear cells and gene amplification was performed by polymerase chain reaction. Subsequently, genotyping for the HTRA1, ARMS2 and CFH genes was performed using direct DNA sequencing analysis. Significant associations (p < 0.05) were detected with AMD for both SNP rs11200638: G > A in the promoter of HTRA1 and rs10490924: G > T in ARMS2 but not for variant Y402H in CFH gene (p > 0.05) in our study population. The A allele frequency of rs11200638 in the HTRA1 promoter was 51.9% in cases versus 39.2% in controls (p = 0.010). The frequency of AA genotype was 28.2% for AMD cases, compared to 17.6% in controls (OR 2.58, 95% CI 1.19–5.58; p = 0.043). The frequency of the TT genotype of rs10490924 in ARMS2 was 25.2% in cases versus 8.8% in controls (OR 2.23, 95% CI 0.83–5.99; p = 0.002). The study reveals an association between specific genetic variants in the HTRA1 and ARMS2 genes and the occurrence of AMD in the Malaysian population. However, contrary to expectations, the study did not identify a substantial correlation between AMD and the Y402H variant of the CFH gene in this specific population.
尽管开展了大量的研究工作，但人们对老年性黄斑变性（AMD）的确切病因和分子基础的了解仍然十分渺茫。要想对遗传因素在老年性黄斑变性中的作用有结论性的认识，对不同人群进行探索至关重要。本研究旨在调查马来西亚多种族人群中 HTRA1、ARMS2 和 CFH 基因中已被证实的主要风险等位基因与老年黄斑变性之间的关联。本研究共招募了 205 名受试者，其中 103 人确诊为老年性黄斑变性，102 人为对照组受试者。研究人员从外周血单核细胞中提取基因组 DNA，并通过聚合酶链反应进行基因扩增。随后，通过直接 DNA 测序分析对 HTRA1、ARMS2 和 CFH 基因进行了基因分型。结果显示，HTRA1 启动子中的 p A 和 ARMS2 中的 rs10490924：在我们的研究人群中，HTRA1 启动子中的 p A 和 ARMS2 中的 rs10490924: G > T 有显著关联，但 CFH 基因中的变异体 Y402H 没有关联（p > 0.05）。HTRA1 启动子中 rs11200638 的 A 等位基因频率在病例中为 51.9%，而在对照中为 39.2%（P = 0.010）。AMD 病例的 AA 基因型频率为 28.2%，而对照组为 17.6%（OR 2.58，95% CI 1.19-5.58；P = 0.043）。ARMS2 中 rs10490924 的 TT 基因型在病例中的频率为 25.2%，而在对照组中为 8.8%（OR 2.23，95% CI 0.83-5.99；p = 0.002）。该研究揭示了 HTRA1 和 ARMS2 基因中的特定遗传变异与马来西亚人群中发生老年性黄斑病变之间的关联。然而，与预期相反的是，在这一特定人群中，研究并未发现 AMD 与 CFH 基因 Y402H 变体之间存在实质性关联。
{"title":"Association of ARMS2, HTRA1 and CFH genes polymorphisms in patients with age-related macular degeneration in the Malaysian population","authors":"Fazliana Ismail, Sarni Mat Junit, Lee Ching Chin, Jaime Jacqueline Jayapalan, Visvaraja Subrayan","doi":"10.1186/s43042-024-00549-8","DOIUrl":"https://doi.org/10.1186/s43042-024-00549-8","url":null,"abstract":"Despite extensive research efforts, understanding the precise causes and molecular underpinnings of age-related macular degeneration (AMD) remains elusive. Exploring different populations becomes crucial to establish conclusive insights into the role of genetic factors in AMD. This study aimed to investigate the association between the well-documented major risk alleles in the HTRA1, ARMS2 and CFH genes with AMD in the Malaysian multi-ethnic population. A total of 205 subjects were enrolled in this study, 103 were diagnosed with AMD while 102 represented the control subjects. Genomic DNA was extracted from peripheral blood mononuclear cells and gene amplification was performed by polymerase chain reaction. Subsequently, genotyping for the HTRA1, ARMS2 and CFH genes was performed using direct DNA sequencing analysis. Significant associations (p < 0.05) were detected with AMD for both SNP rs11200638: G > A in the promoter of HTRA1 and rs10490924: G > T in ARMS2 but not for variant Y402H in CFH gene (p > 0.05) in our study population. The A allele frequency of rs11200638 in the HTRA1 promoter was 51.9% in cases versus 39.2% in controls (p = 0.010). The frequency of AA genotype was 28.2% for AMD cases, compared to 17.6% in controls (OR 2.58, 95% CI 1.19–5.58; p = 0.043). The frequency of the TT genotype of rs10490924 in ARMS2 was 25.2% in cases versus 8.8% in controls (OR 2.23, 95% CI 0.83–5.99; p = 0.002). The study reveals an association between specific genetic variants in the HTRA1 and ARMS2 genes and the occurrence of AMD in the Malaysian population. However, contrary to expectations, the study did not identify a substantial correlation between AMD and the Y402H variant of the CFH gene in this specific population.","PeriodicalId":39112,"journal":{"name":"Egyptian Journal of Medical Human Genetics","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-07-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141574256","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-07-08DOI: 10.1186/s43042-024-00544-z
Jumana Gamal Abou Eleila, Amal Abdel Wahab Mohamed, Emam Abdalatif Waked, Laila Nessim Kamel, Hanan Shawky Amin, Hadeel Mohammad Elhanafi
Diabetic nephropathy (DN) is a frequent and long-lasting microvascular consequence that has an established connection with diabetes. It serves as the primary etiological agent of end-stage renal disease, a critical renal disorder that develops on a worldwide level. The molecular pathophysiology of DN is multifactorial, such as transforming growth factor-beta [TGF-β] which affects the expression of miRNAs such as miRNA-21 and miRNA-192 during renal fibrosis. However, to date, the clinical application is inadequate due to discrepancies observed in the published data. This cross-sectional investigation aimed to assess the correlation between serum TGF-β1, miRNA-21 and 192, and glycemic control, metabolic abnormalities, and renal function in patients with type II diabetes. Based on the albumin/creatinine ratio (ACR), fifty subjects with type II diabetes were divided into three categories: Group I consisted of individuals with normoalbuminuria (n = 16), Group II of microalbuminuria (n = 16), and Group III of overt proteinuria (n = 18). All participants were subjected to the estimation of mature miRNA-21 and miRNA-192 by TaqMan two-step stem loop qRT-PCR and serum TGFβ1 level by ELISA. There was an upregulation in miRNA-21 expression in the 3 different groups of patients (p value = 0.043). The serum fold change (FC) of miRNA-21 showed significantly greater median values in patients with overt proteinuria compared to those with normoalbuminuria (5.57 FC versus 1.11 FC, p = 0.017). A positive correlation (r = 0.343) (p = 0.013) was observed between the ACR and the median levels of miRNA-21, which was statistically significant. No statistically significant distinctions were detected in the concentrations of serum TGF-β1 or miRNA-192 among the three patient groups (p values of 0.234 and 0.225, respectively). The findings of the present research implied that miRNA-21 might function as an early indicator of renal pathology associated with diabetes mellitus (DM).
{"title":"Evaluation of serum MicroRNA 21, MicroRNA 192 and serum TGFβ1 in type 2 diabetes mellitus patients and their relation to diabetic nephropathy","authors":"Jumana Gamal Abou Eleila, Amal Abdel Wahab Mohamed, Emam Abdalatif Waked, Laila Nessim Kamel, Hanan Shawky Amin, Hadeel Mohammad Elhanafi","doi":"10.1186/s43042-024-00544-z","DOIUrl":"https://doi.org/10.1186/s43042-024-00544-z","url":null,"abstract":"Diabetic nephropathy (DN) is a frequent and long-lasting microvascular consequence that has an established connection with diabetes. It serves as the primary etiological agent of end-stage renal disease, a critical renal disorder that develops on a worldwide level. The molecular pathophysiology of DN is multifactorial, such as transforming growth factor-beta [TGF-β] which affects the expression of miRNAs such as miRNA-21 and miRNA-192 during renal fibrosis. However, to date, the clinical application is inadequate due to discrepancies observed in the published data. This cross-sectional investigation aimed to assess the correlation between serum TGF-β1, miRNA-21 and 192, and glycemic control, metabolic abnormalities, and renal function in patients with type II diabetes. Based on the albumin/creatinine ratio (ACR), fifty subjects with type II diabetes were divided into three categories: Group I consisted of individuals with normoalbuminuria (n = 16), Group II of microalbuminuria (n = 16), and Group III of overt proteinuria (n = 18). All participants were subjected to the estimation of mature miRNA-21 and miRNA-192 by TaqMan two-step stem loop qRT-PCR and serum TGFβ1 level by ELISA. There was an upregulation in miRNA-21 expression in the 3 different groups of patients (p value = 0.043). The serum fold change (FC) of miRNA-21 showed significantly greater median values in patients with overt proteinuria compared to those with normoalbuminuria (5.57 FC versus 1.11 FC, p = 0.017). A positive correlation (r = 0.343) (p = 0.013) was observed between the ACR and the median levels of miRNA-21, which was statistically significant. No statistically significant distinctions were detected in the concentrations of serum TGF-β1 or miRNA-192 among the three patient groups (p values of 0.234 and 0.225, respectively). The findings of the present research implied that miRNA-21 might function as an early indicator of renal pathology associated with diabetes mellitus (DM).","PeriodicalId":39112,"journal":{"name":"Egyptian Journal of Medical Human Genetics","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-07-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141574249","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
MicroRNAs have been proposed as a novel regulatory biomarker for gene expression and early diagnosis of cancers. In this study, we evaluate the expression level of miR-31-5p in the serum of patients with oral squamous cell carcinoma, oral lichen planus, and a healthy control group to obtain a primary diagnostic biomarker. Serum was collected from patients with oral lichen planus (n = 32), patients with oral squamous cell carcinoma (n = 35), and healthy subjects (n = 32). MicroRNA was isolated from serum and cDNA was made from it. Then, the quantitative and qualitative expression of miR-31-5p levels among the samples was checked by the qRT-PCR method. In this study, three groups were quantitatively and qualitatively analyzed for miR-31-5p expression in serum. The results showed that there was a statistically significant correlation between the mean quantitative and qualitative expression of miR-31-5p among the three groups (P < 0.05). The expression of miR-31-5p was significantly higher in patients with oral squamous cell carcinoma and oral lichen planus compared with healthy controls. MiR-31-5p can be considered as a biomarker in serum that could be potentially reliable in the diagnosis and prognosis of oral squamous cell carcinoma and also in the transformation of lichen planus.
{"title":"Serum mir-31-5p is a reliable biomarker in patients with oral squamous cell carcinoma and oral lichen planus","authors":"Nooshin Mohtasham, Zahra Ghorbani, Hossein Ayatollahi, Fatemeh Arab, Seyed Hamid Aghaee-Bakhtiari, Bashir Rasoulian, Farnaz Mohajertehran","doi":"10.1186/s43042-024-00531-4","DOIUrl":"https://doi.org/10.1186/s43042-024-00531-4","url":null,"abstract":"MicroRNAs have been proposed as a novel regulatory biomarker for gene expression and early diagnosis of cancers. In this study, we evaluate the expression level of miR-31-5p in the serum of patients with oral squamous cell carcinoma, oral lichen planus, and a healthy control group to obtain a primary diagnostic biomarker. Serum was collected from patients with oral lichen planus (n = 32), patients with oral squamous cell carcinoma (n = 35), and healthy subjects (n = 32). MicroRNA was isolated from serum and cDNA was made from it. Then, the quantitative and qualitative expression of miR-31-5p levels among the samples was checked by the qRT-PCR method. In this study, three groups were quantitatively and qualitatively analyzed for miR-31-5p expression in serum. The results showed that there was a statistically significant correlation between the mean quantitative and qualitative expression of miR-31-5p among the three groups (P < 0.05). The expression of miR-31-5p was significantly higher in patients with oral squamous cell carcinoma and oral lichen planus compared with healthy controls. MiR-31-5p can be considered as a biomarker in serum that could be potentially reliable in the diagnosis and prognosis of oral squamous cell carcinoma and also in the transformation of lichen planus.","PeriodicalId":39112,"journal":{"name":"Egyptian Journal of Medical Human Genetics","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-07-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141546482","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-07-03DOI: 10.1186/s43042-024-00545-y
Mariya Levkova, Milena Stoyanova, Mari Hachmeriyan, Lyudmila Angelova
It is crucial to create a cost-effective work protocol that will guide everyone involved in diagnosing children with dysmorphic features step-by-step and ensure that testing costs are reduced without compromising care quality in light of the rising prevalence of rare diseases and congenital malformations. Based on our own experience, we offer an effective approach for identifying children with dysmorphic traits. Following a thorough medical history and physical examination utilizing the dysmorphology checklist we created, the patient should have their photographs taken. The second step involves using face recognition software and searching dysmorphology databases for a matching diagnosis. The final two steps of the suggested protocol are ordering the molecular-genetic analysis and providing genetic counseling. The suggested approach could help in everyday practice and reduce unnecessary testing. It takes significant clinical expertise and knowledge to correctly diagnose a syndrome, especially the capacity to recognize the particular dysmorphic symptoms that can be typical for a given genetic disorder. The suggested dysmorphology checklist could be extremely helpful for routine daily practice.
{"title":"A cost-efficient algorithm for diagnosing children with dysmorphic features","authors":"Mariya Levkova, Milena Stoyanova, Mari Hachmeriyan, Lyudmila Angelova","doi":"10.1186/s43042-024-00545-y","DOIUrl":"https://doi.org/10.1186/s43042-024-00545-y","url":null,"abstract":"It is crucial to create a cost-effective work protocol that will guide everyone involved in diagnosing children with dysmorphic features step-by-step and ensure that testing costs are reduced without compromising care quality in light of the rising prevalence of rare diseases and congenital malformations. Based on our own experience, we offer an effective approach for identifying children with dysmorphic traits. Following a thorough medical history and physical examination utilizing the dysmorphology checklist we created, the patient should have their photographs taken. The second step involves using face recognition software and searching dysmorphology databases for a matching diagnosis. The final two steps of the suggested protocol are ordering the molecular-genetic analysis and providing genetic counseling. The suggested approach could help in everyday practice and reduce unnecessary testing. It takes significant clinical expertise and knowledge to correctly diagnose a syndrome, especially the capacity to recognize the particular dysmorphic symptoms that can be typical for a given genetic disorder. The suggested dysmorphology checklist could be extremely helpful for routine daily practice.","PeriodicalId":39112,"journal":{"name":"Egyptian Journal of Medical Human Genetics","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-07-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141546483","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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