Egyptian Journal of Medical Human Genetics最新文献

{"title":"Correction: Emanuel syndrome due to unusual pattern","authors":"Hala T. El-Bassyouni, Engy A. Ashaat, Khaled Hamed, Maha R. Abouzaid, Azza E. Abd-Elnaby, Marwa Shehab","doi":"10.1186/s43042-024-00548-9","DOIUrl":"https://doi.org/10.1186/s43042-024-00548-9","url":null,"abstract":"<p><b>Correction: Egyptian Journal of Medical Human Genetics (2024) 25:21</b> <b>https://doi.org/10.1186/s43042-024-00494-6</b></p><p>Following publication of the original article [1], the authors identified an error in the author name of Maha R. Abouzaid.</p><p>The incorrect name is: Maha Rashed</p><p>The correct name is: Maha R. Abouzaid</p><ol data-track-component=\"outbound reference\" data-track-context=\"references section\"><li data-counter=\"1.\"><p>El-Bassyouni HT et al (2024) Emanuel syndrome due to unusual pattern. Egypt J Med Hum Genet 25:21. https://doi.org/10.1186/s43042-024-00494-6</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>Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, P.O. 12622, Cairo, Egypt</p><p>Hala T. El-Bassyouni, Engy A. Ashaat &amp; Khaled Hamed</p></li><li><p>Orodental Genetics Department, National Research Centre, Giza, Egypt</p><p>Maha R. Abouzaid</p></li><li><p>Cytogenetics Department, National Research Centre, Giza, Egypt</p><p>Azza E. Abd-Elnaby &amp; Marwa Shehab</p></li></ol><span>Authors</span><ol><li><span>Hala T. El-Bassyouni</span>View author publications<p>You can also search for this author in <span>PubMed<span> </span>Google Scholar</span></p></li><li><span>Engy A. Ashaat</span>View author publications<p>You can also search for this author in <span>PubMed<span> </span>Google Scholar</span></p></li><li><span>Khaled Hamed</span>View author publications<p>You can also search for this author in <span>PubMed<span> </span>Google Scholar</span></p></li><li><span>Maha R. Abouzaid</span>View author publications<p>You can also search for this author in <span>PubMed<span> </span>Google Scholar</span></p></li><li><span>Azza E. Abd-Elnaby</span>View author publications<p>You can also search for this author in <span>PubMed<span> </span>Google Scholar</span></p></li><li><span>Marwa Shehab</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 Engy A. Ashaat.</p><h3>Publisher's Note</h3><p>Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.</p><p><b>Open Access</b> This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwi","PeriodicalId":39112,"journal":{"name":"Egyptian Journal of Medical Human Genetics","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141513074","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}

{"title":"miR-146a and miR-155 as promising biomarkers for prognosis and diagnosis of multiple sclerosis: systematic review","authors":"Soroush Rajabi, Kambiz Sadegi, Sara Hajisobhani, Mania Kaveh, Eskandar Taghizadeh","doi":"10.1186/s43042-024-00543-0","DOIUrl":"https://doi.org/10.1186/s43042-024-00543-0","url":null,"abstract":"Small RNA molecules known as microRNAs (miRNAs) regulate gene expression during the post-translational steps. miRNAs are essential for many physiological processes, such as cell division, growth, and proliferation, as well as development and metabolism. To review the developments in investigations on miR-155 and miR-146a as possible biomarkers for multiple sclerosis (MS) disease diagnosis and prognosis. A comprehensive analysis of the available literature was carried out by searching databases including PubMed, Scopus, and Web of Science for papers published between 2011 and 2023 years. Only original articles written in the English language were considered for inclusion in this review. A total of 29 studies were initially identified, with 14 meeting the inclusion criteria. The present study underscores the crucial role of microRNAs, particularly miR-155 and miR-146a, in the etiology and progression of multiple sclerosis (MS). Through an extensive analysis of the literature, we have found compelling evidence linking aberrations in the expression and function of these microRNAs to MS pathogenesis. Specifically, our synthesis suggests that miR-155 and miR-146a hold promise as valuable biomarkers for both the diagnosis and prognosis of MS. Despite the challenges posed by the heterogeneity of MS subtypes, the non-invasive accessibility of miRNAs in various bodily fluids, including serum, peripheral blood, cerebrospinal fluid, and extracellular vesicles, presents a promising avenue for the development of robust diagnostic and prognostic tools. By elucidating the intricate roles of miR-155 and miR-146a in MS, our findings contribute to advancing our understanding of the disease mechanisms and pave the way for the development of more effective diagnostic and therapeutic strategies.","PeriodicalId":39112,"journal":{"name":"Egyptian Journal of Medical Human Genetics","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141504709","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}

{"title":"Preliminary study: nutrigenomics analysis results of COVID-19 survivors","authors":"Anna Surgean Veterini, Bambang Pujo Semedi, Prananda Surya Airlangga, Khildan Miftahul Firdaus, Akhyar Nur Uhud, Prihatma Kriswidyatomo, Rauzan Sumara","doi":"10.1186/s43042-024-00547-w","DOIUrl":"https://doi.org/10.1186/s43042-024-00547-w","url":null,"abstract":"Numerous attempts have been made at both prevention and treatment of COVID-19. Specific genotypes carry a risk of causing clinical symptoms that can be beneficial or detrimental. We performed nutrigenomics testing on COVID-19 survivors who were on ventilators during their treatment and mild COVID-19 survivors who did not require ventilators to determine the risk of genetic variation through nutrigenomic testing regarding COVID-19 incidence. DNA was isolated from saliva and genotyped for genetic markers using a commercially available nutrigenomics test. We compared genotype frequencies between those with severe symptoms (cases) and those with mild symptoms (controls). Sequencing results showed that the distribution from pattern of the Sankey diagram included an ultra risk category in the control group, but not in the case group. None of the subjects in the case group were in the ultra risk category for resilience. A descriptive pattern of risk-level distribution was observed in both the control and case groups. One subject in the ultra risk category was in the control group, indicating a lower risk factor for severe COVID-19. From this study, a uniqueness begins to emerge, revealing the discovery of ultra-category patterns in the endurance of the control group. The vitamin E risk deficiency is significantly higher in the severe COVID-19 group compared to the mild group, categorized as \"typical.\"","PeriodicalId":39112,"journal":{"name":"Egyptian Journal of Medical Human Genetics","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141530519","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}

{"title":"Novel TRPV6 variant linked with transient neonatal hyperparathyroidism","authors":"Chanchal Kumar, Sarada Vani, Namita Neelkanth Deshmukh, Sujith Omkaram, Rajeev Pothala, Sushma Poornima Bathina, Deepika Dodda","doi":"10.1186/s43042-024-00537-y","DOIUrl":"https://doi.org/10.1186/s43042-024-00537-y","url":null,"abstract":"Hereditary transient neonatal hyperparathyroidism (TNHP) is a rare autosomal-recessive condition caused by variants in TRPV6 gene which encodes for a transient maternal–fetal calcium transport channel. This is characterized by interference with placental maternal–fetal calcium transport causing fetal calcium deficiency. It primarily manifests as defective bone mineralization, narrow and bell-shaped thorax, bone fractures and short bones at birth. The current study aimed to describe a novel TRPV6 variant linked with TNHP in an Indian family and the review of literature. The proband is a term female neonate with fetal growth restriction born to a third-degree consanguineous couple. She was noted to have diffuse defective bone mineralization, narrow and bell-shaped thoracic cavity, short bones and curved ribs without any bone fractures. The first pregnancy was affected with similar features in the fetus and had been terminated. Parental whole-exome sequencing suggested heterozygous missense variant in exon 12 of the TRPV6 gene (c.1585G > A, p.Asp529Asn) in both the parents. The proband required non-invasive respiratory support for ten days in neonatal intensive care unit. She had low calcium and high parathyroid hormone (PTH) and alkaline phosphatase (ALP) levels. She received calcium, phosphorus and vitamin D supplements for three months leading to normalization of serum PTH and ALP levels. Whole-exome sequencing of the proband suggested a homozygous missense variant in exon 12 of the TRPV6 gene (p.Asp529Asn; ENST00000359396.9) that results in the amino acid substitution of asparagine for aspartic acid at codon 529. To the best of author’s knowledge, this is the twelfth case of TNHP reported in literature. The novel variant of TRPV6 gene present in this family has not been reported earlier. Our finding broadens the genotypic spectrum of TNHP.","PeriodicalId":39112,"journal":{"name":"Egyptian Journal of Medical Human Genetics","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-06-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141504710","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}

{"title":"Deciphering the landscape of lncRNA-driven ceRNA network in schizophrenia etiology","authors":"Anirban Mukhopadhyay, Prithvi Singh, Ravins Dohare, B. K. Thelma","doi":"10.1186/s43042-024-00542-1","DOIUrl":"https://doi.org/10.1186/s43042-024-00542-1","url":null,"abstract":"The unifying hypothesis of competing endogenous RNA (ceRNA) wherein crosstalk between coding (mRNAs) and long non-coding RNAs (lncRNAs) via microRNA (miRNA) response elements, creates a pervasive regulatory network across the transcriptome, has been implicated in complex disorders including schizophrenia. Even with a wide range of high-throughput data, the etiology of schizophrenia remains elusive, necessitating a more holistic understanding of the altered genetic landscape, shifting focus from solely candidate gene studies and protein-coding variants. We developed lncRNA-associated ceRNA networks to elucidate global molecular/regulatory signatures underlying schizophrenia using diverse data in the public domain. Microarray dataset associated with peripheral blood mononuclear cells (PBMCs) of schizophrenia and control patients was used to identify differentially expressed mRNAs. Weighted gene co-expression network analysis (WGCNA) was used to identify highly correlated hubs, and genes from these overlapping Kyoto Encyclopedia of Genes and Genomes (KEGG) and gene ontology (GO) term genesets were considered key mRNA players. StarBase, Human MicroRNA Disease Database, and miRWalk were used to derive mRNA-miRNA and miRNA-lncRNA relationships. Finally, the key mRNAs, interacting lncRNAs and miRNAs were chosen to reconstruct sub-ceRNA networks based on network centrality scores. Bioinformatics analysis revealed the involvement of three differentially expressed mRNAs, namely ADRA1A, HAP1 and HOMER3 in the schizophrenia ceRNA networks with lncRNAs NEAT1, XIST, and KCNQ1OT1 modulating their activity by a suggestive sequestering of miR-3163, miR-214-3p and miR-2467-3p, respectively. Furthermore, based on contextual evidence, we propose how ceRNAs could orchestrate crosstalk between neurostructural dynamics and immune/inflammatory processes and enable unifying these disparate models of schizophrenia etiology.","PeriodicalId":39112,"journal":{"name":"Egyptian Journal of Medical Human Genetics","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-06-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141504711","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}

{"title":"VHL mutation as a cause of three generations familial pheochromocytoma","authors":"Mari Carmen Moran-Espinosa, Héctor Diaz-García, Rocío Sánchez-Urbina, Javier T. Granados-Riveron, Miriam Deyanira Rodriguez-Piña, Ángeles Leyda Avilés-García, Miguel Ángel Rubio-Leal, Karla Ariadna Martínez-Camacho, Hugo Mendieta-Zeron","doi":"10.1186/s43042-024-00538-x","DOIUrl":"https://doi.org/10.1186/s43042-024-00538-x","url":null,"abstract":"Pheochromocytoma is a rare disease, and its familial occurrence is quite uncommon. The aim of this paper is to report a three-generation phenotypical expression of a case familial occurrence of pheochromocytoma. A 25-year-old female, with a history of adrenalectomy for pheochromocytoma, arrived at the shock room during her third pregnancy with an adrenergic crisis and hypoglycemia. To prevent perinatal complications, the patient was stabilized and the newborn was delivered through a Kerr-type cesarean section. A detailed history revealed that the paternal grandfather of the patient had an unilateral pheochromocytoma, whereas her paternal uncle had a bilateral pheochromocytoma. Additionally, a brother of the patient presented a unilateral pheochromocytoma. Amplicons for PCR assays were designed to span the protein-coding segments of the three Von Hippel–Lindau (VHL) exons, and the PCR products were sequenced using the Sanger method. In the trace of exon 3, we detected in the sample of the proband a heterozygous guanine to adenine transition (NM_000551.4 c. 552G > A) within the protein-coding segment of exon 3 of the VHL gene, which leads to a substitution of the arginine residue at position 161 by a glutamine residue in the encoded peptide (NP_000542.1p.R161Q). This mutation was absent in two unaffected daughters. A VHL mutation was suspected and confirmed in this family that was not transmitted to a fourth generation. This case illustrates the importance of molecular genetics methodologies to assist genetic counseling in cases of pheochromocytoma where familial aggregation is presumed.","PeriodicalId":39112,"journal":{"name":"Egyptian Journal of Medical Human Genetics","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-06-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141504713","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}

{"title":"The potentials of nonlinear polarization with hyperspectral imaging of RNA for hepatocellular carcinoma early diagnosis","authors":"Yasser H. El-Sharkawy, Sherif Elbasuney, Sara M. Radwan, Mostafa A. Askar, Samar H. Rizk, Gharieb S. El-Sayyad","doi":"10.1186/s43042-024-00541-2","DOIUrl":"https://doi.org/10.1186/s43042-024-00541-2","url":null,"abstract":"Most cancers acquire numerous genetic changes in proto-oncogenes as well as tumor-suppressor genes. Cancer's early diagnosis remains a challenge. Recently, nonlinear polarization has revealed the potential as a promising tool for early cancer diagnosis. Laser-induced nonlinear polarization can offer a novel fingerprint signature. In this study, nonlinear polarization was adopted for the characterization of both DNA and RNA samples from healthy volunteers. Total DNA and RNA were illuminated with a 656-nm LED source, and the resonance frequencies (scattered and re-emitted signals) were captured and recorded using a hyperspectral camera. Changes in signal frequency as well as phase shift offered a potent means to differentiate DNA (control) from RNA (control). DNA (control) demonstrated characteristic resonance frequencies that differ from total RNA (control) at the 2nd, 3rd, 4th, and 5th harmonics. While DNA demonstrated a phase shift dominating at 0.88 GHz, RNA dominates at 0.106 GHz. The resonance spectral signature of RNA samples from people with hepatocellular carcinoma (HCC) was compared to that of RNA (control). RNA (HCC) demonstrated distinctive frequency signals at 0.014, 0.021, 0.032, and 0.072 GHz. These characteristics feature could facilitate early HCC diagnosis. While RNA (control) dominates at 0.014 and 0.072 MHz, RNA (HCC) dominates at 0.021 and 0.032. As far as we are aware, this is the initial investigation into the use of simple nonlinear polarization to generate spectral fingerprinting signatures of total DNA and RNA. Furthermore, RNA mutations due to HCC were identified via characteristic nonlinear spectral signature.","PeriodicalId":39112,"journal":{"name":"Egyptian Journal of Medical Human Genetics","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-06-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141504712","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}

{"title":"Genetic analysis of BRPF1 exon deletion variant causing intellectual developmental disorder with dysmorphic facies and ptosis in a Chinese family","authors":"Qian Liu, Feifei Li, Nana Wang, Zhengjun Fan","doi":"10.1186/s43042-024-00539-w","DOIUrl":"https://doi.org/10.1186/s43042-024-00539-w","url":null,"abstract":"Intellectual developmental disorders with dysmorphic facies and ptosis (IDDDFP) are rare neurological conditions caused by variants in the BRPF1 gene. They primarily manifest as intellectual disabilities (ID) alongside distinctive facial features, particularly ptosis and blepharophimosis. This study aimed to investigate the molecular etiology and phenotype of the inaugural IDDDFP family documented in China. Clinical data were collected and validated through trio-based whole-exome sequencing of DNA from the proband and her parents, complemented by quantitative polymerase chain reaction (qPCR). The proband, a 10-month-old girl, presented with focal seizures and developmental delays. Notably, she exhibited facial features similar to those of her mother and sister, including ptosis and blepharophimosis. Both the proband’s mother and sister also had mild ID. Genetic testing identified BRPF1 deletion variants in all affected individuals, resulting in exon 2–14 heterozygous deletion. The qPCR verification confirmed the wild-type BRPF1 in the proband’s father and eldest sister. A review of 46 documented patients with BRPF1 deficiency revealed that the primary clinical manifestations encompassed varying degrees of ID alongside special facial features, skeletal deformities, and ocular abnormalities. However, epilepsy was found to be rare in this syndrome. The syndrome has variable phenotypic features of neurodevelopmental disorders. Meanwhile, there seems to be a lack of correlation between phenotype and genotype. Our findings broaden the genotypic and phenotypic spectrum of individuals with genetically pathogenic variants of BRPF1. Moreover, they underscore the significance of recognizing ptosis and blepharophimosis associated with ID or seizures as potential signs of BRPF1 variants.","PeriodicalId":39112,"journal":{"name":"Egyptian Journal of Medical Human Genetics","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-06-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141513061","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}

{"title":"Causal associations between gut microbiota and chronic prostatitis/chronic pelvic pain syndrome: a two-sample Mendelian randomization study","authors":"Hao Xu, Yu Zhang, Yinglang Zhang, Chong Shen, Zhe Zhang, Jian Wang, Diansheng Zhou, Zhouliang Wu, Yunkai Qie, Shenglai Liu, Dawei Tian, Hailong Hu, Changli Wu","doi":"10.1186/s43042-024-00540-3","DOIUrl":"https://doi.org/10.1186/s43042-024-00540-3","url":null,"abstract":"Recent researches have increasingly indicated a strong correlation between the gut microbiota and chronic prostatitis/chronic pelvic pain syndrome (CP/CPPS). Nevertheless, the impact of gut microbiota on CP/CPPS still requires further elucidation. Employing the summary statistics provided by the MiBioGen consortium, we executed a two-sample Mendelian randomization (MR) analysis. The study involved 18,340 participants and considered gut microbiota as the instrumental variable. Chronic prostatitis summary statistics, representing 500 cases and 208,308 controls, were extracted from the GWAS Catalog release data as the disease outcome. Various methods, including weighted inverse variance, MR-Egger and weighted median, were employed to assess how gut microbiota interact and correlate with CP/CPPS. Sensitivity analysis was used to eliminate heterogeneity and horizontal pleiotropy. Our findings, primarily derived from the IVW approach, provided evidence for a causal link between five categories of gut microbiota and CP/CPPS. Resultantly, the genus Christensenellaceae (OR = 0.39, 95% CI 0.17–0.87, P = 0.02), genus Eisenbergiella (OR = 0.62, 95% CI 0.40–0.97, P = 0.04), genus Hungatella (OR = 0.49, 95% CI 0.28–0.85, P = 0.01) and genus Terrisporobacter (OR = 0.39, 95% CI 0.20–0.75, P = 0.00) exhibited a protective impact on CP/CPPS, while family Prevotellaceae (OR = 1.78, 95% CI 1.01–3.15, P = 0.05) had the opposite effect. No notable heterogeneity of instrumental variables or horizontal pleiotropy was detected. The findings of this study, which used a two-sample Mendelian randomization approach, indicate a causal link between gut microbiota and CP/CPPS. This could be valuable in offering fresh perspectives for additional mechanistic and clinical investigations of microbiota-related CP/CPPS. Nevertheless, additional randomized controlled trials are necessary for validation.","PeriodicalId":39112,"journal":{"name":"Egyptian Journal of Medical Human Genetics","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-06-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141530520","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}

{"title":"Association of insertion/deletion (I/D) polymorphism of angiotensin-converting enzyme gene (ACE) with Parkinson’s disease and factors risk in eastern Algeria: case–control study","authors":"Horchi-Mekkaoui Meroua, Achou Rayene, Djoudi Brahim, Laouar Rania, Gharzouli Razika, Taghane Naima, Abadi Noureddine, Satta Dalila","doi":"10.1186/s43042-024-00536-z","DOIUrl":"https://doi.org/10.1186/s43042-024-00536-z","url":null,"abstract":"This study aimed to explore the relationship between Parkinson’s disease and insertion/deletion polymorphism (I/D) of the angiotensin-converting enzyme gene (ACE) and to highlight the related risk factors within Eastern Algerian population. A total of 262 individuals were recruited, including 100 PD patients and 162 controls. Polymerase chain reaction technique was employed to determine the ACE polymorphism genotype of each participant. Logistic regression analysis was conducted to examine factors potentially contributing to Parkinson’s disease. The mean age of onset of Parkinson’s disease in the patient group was 56.18 $$pm 12.99$$ . The results revealed that the D allele of the angiotensin-converting enzyme gene and the DD genotype were most prevalent in both patients and controls. However, there were no significant differences in the genotype and allele frequencies of the I/D polymorphism of the angiotensin-converting enzyme gene between patients and healthy subjects. Cardiovascular disease, diabetes and profession were identified as potential risk factors for Parkinson’s disease. The obtained data indicated no correlation between the angiotensin-converting enzyme I/D gene polymorphism and Parkinson’s disease in our research cohort. Multiple logistic regression analysis revealed that cardiovascular disease, diabetes and profession were possible risk factors for Parkinson’s disease.","PeriodicalId":39112,"journal":{"name":"Egyptian Journal of Medical Human Genetics","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-06-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141504714","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}