Pub Date : 2024-07-04DOI: 10.2174/0118756921287724240628080642
Mina Allahverdi, S. Angaji, B. Beikzadeh, Raheleh Roudi
Prostate cancer is the second most frequent malignancy after lung cancer among men, accounting for 7% of new cancers diagnosed around the world (15% in developed regions). This disease has become more prevalent in Iran over the past few decades, moving up the rankings from 13th in 1986 to 4th in 2005 and finally reaching third place in a recent study in 2016. The purpose of this study is to investigate the association of rs10486567, rs13149290, rs6983267, and rs1545985 with prostate cancer predisposition in the Iranian population. Due to the genetic heterogeneity, each of the SNP should be studied separately in various communities. This study was conducted as a case-control study on 200 patients referred to Hashminejad Hospital in Tehran. 103 men with prostate adenocarcinoma were selected as case, and 97 men with benign prostatic hyperplasia (BPH) were selected as control. In this research, according to FAVORGENE-Taiwan extraction kit instructions, genomic DNA was extracted from peripheral blood lymphocytesTetra-primer ARMS-PCR method was used for SNP genotyping. The significance level at the first stage was p-value≤0.4. rs10486567 (p-value = 0.802) and rs6983267 (p-value = 0.684). Based on the additive and multiplicative genetic model, no association of these polymorphisms with prostate adenocarcinoma was observed. As a result, rs10486567 and rs6983267 were removed at this stage. rs13149290 (p-value=0.4) and rs1545985 (p-value=0.4) at this stage were selected for the next stage. At the second stage rs13149290 (p-value=0.043) showed a significant difference in the comparison between the two groups, but this difference was not observed in relation to rs1545985 (p-value=0.392) rs1545985 was not associated with prostate adenocarcinoma in the additive genetic model. According to P=0.013 and OR (95% CI) =3.837 (1.306-11.268), rs13149290 polymorphism is associated with prostate adenocarcinoma in the additive genetic model (TT vs CC). As a result of this study, it was observed that rs13149290 is associated with prostate cancer in the Iranian population. Also this polymorphism is associated with Gleason score=7 and PSA ≤4. Prostate cancer as an exposure effect is heterogeneous between different PSA levels. It is suggested that this polymorphism be investigated in a larger population and in each ethnic group separately.
{"title":"Association Study between rs10486567, rs13149290, rs1545985 and rs6983267 with Incidence of Prostate Adenocarcinoma Among Iranians","authors":"Mina Allahverdi, S. Angaji, B. Beikzadeh, Raheleh Roudi","doi":"10.2174/0118756921287724240628080642","DOIUrl":"https://doi.org/10.2174/0118756921287724240628080642","url":null,"abstract":"\u0000\u0000Prostate cancer is the second most frequent malignancy after lung cancer\u0000among men, accounting for 7% of new cancers diagnosed around the world (15% in developed regions).\u0000This disease has become more prevalent in Iran over the past few decades, moving up the\u0000rankings from 13th in 1986 to 4th in 2005 and finally reaching third place in a recent study in 2016.\u0000The purpose of this study is to investigate the association of rs10486567, rs13149290, rs6983267,\u0000and rs1545985 with prostate cancer predisposition in the Iranian population. Due to the genetic heterogeneity,\u0000each of the SNP should be studied separately in various communities.\u0000\u0000\u0000\u0000This study was conducted as a case-control study on 200 patients referred\u0000to Hashminejad Hospital in Tehran. 103 men with prostate adenocarcinoma were selected as case,\u0000and 97 men with benign prostatic hyperplasia (BPH) were selected as control. In this research, according\u0000to FAVORGENE-Taiwan extraction kit instructions, genomic DNA was extracted from\u0000peripheral blood lymphocytesTetra-primer ARMS-PCR method was used for SNP genotyping.\u0000\u0000\u0000\u0000The significance level at the first stage was p-value≤0.4. rs10486567 (p-value = 0.802) and\u0000rs6983267 (p-value = 0.684). Based on the additive and multiplicative genetic model, no association\u0000of these polymorphisms with prostate adenocarcinoma was observed. As a result, rs10486567\u0000and rs6983267 were removed at this stage. rs13149290 (p-value=0.4) and rs1545985 (p-value=0.4)\u0000at this stage were selected for the next stage. At the second stage rs13149290 (p-value=0.043)\u0000showed a significant difference in the comparison between the two groups, but this difference was\u0000not observed in relation to rs1545985 (p-value=0.392) rs1545985 was not associated with prostate\u0000adenocarcinoma in the additive genetic model. According to P=0.013 and OR (95% CI) =3.837\u0000(1.306-11.268), rs13149290 polymorphism is associated with prostate adenocarcinoma in the additive\u0000genetic model (TT vs CC).\u0000\u0000\u0000\u0000As a result of this study, it was observed that rs13149290 is associated with prostate\u0000cancer in the Iranian population. Also this polymorphism is associated with Gleason score=7 and\u0000PSA ≤4. Prostate cancer as an exposure effect is heterogeneous between different PSA levels. It is\u0000suggested that this polymorphism be investigated in a larger population and in each ethnic group\u0000separately.\u0000","PeriodicalId":11056,"journal":{"name":"Current Pharmacogenomics and Personalized Medicine","volume":" 16","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-07-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141678232","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 : 2024-05-17DOI: 10.2174/0118756921305151240503075928
R. Devarinti, M. S. Ganachari
Clinical trial participants play a crucial role in advancing medical research, and the data generated from their participation can indeed be invaluable for future studies. However, the reuse of genetic or clinical research data comes with ethical challenges that need careful consideration. Here are some of the key ethical issues associated with the re-use of such data: Reusing data without clear informed consent raises issues of autonomy and respect for individuals' choices. The main aim of this study is to assess the understanding of individuals involved in clinical trials regarding the sharing of genetic research information. Moreover, it seeks to explore the ethical issues and benefits linked with the use of genetic research data for future research initiatives. A cross-sectional observational study was applied to assess Knowledge Attitude Practices of clinical trial participants on reuse of genetic research data. The majority 70% of clinical trial participants were unsure about the difficulties that may arise in future regarding the re-use of genomic data, with concerns about confidentiality being the most common. The present study prioritized the involvement of clinical trial participants due to their critical role in both genetic and clinical research endeavors. There is a lack of awareness and understanding regarding the re-use of genetic sample data and ethical issues among the trial participants. Researchers must take measures to de-identify or anonymize data to protect participants. There is a clear need for comprehensive awareness programs and guidelines aimed at all clinical trial stakeholders. These initiatives would ensure that researchers, participants, and other involved parties are well-informed and adhere to ethical standards when utilizing genetic data for subsequent research endeavors.
{"title":"Clinical Trial Participant's Perspectives on Genetic Research Data Re-uses for Future Research","authors":"R. Devarinti, M. S. Ganachari","doi":"10.2174/0118756921305151240503075928","DOIUrl":"https://doi.org/10.2174/0118756921305151240503075928","url":null,"abstract":"\u0000\u0000Clinical trial participants play a crucial role in advancing medical\u0000research, and the data generated from their participation can indeed be invaluable for\u0000future studies. However, the reuse of genetic or clinical research data comes with ethical\u0000challenges that need careful consideration. Here are some of the key ethical issues associated\u0000with the re-use of such data: Reusing data without clear informed consent raises issues\u0000of autonomy and respect for individuals' choices.\u0000\u0000\u0000\u0000The main aim of this study is to assess the understanding of individuals involved\u0000in clinical trials regarding the sharing of genetic research information. Moreover,\u0000it seeks to explore the ethical issues and benefits linked with the use of genetic research\u0000data for future research initiatives.\u0000\u0000\u0000\u0000A cross-sectional observational study was applied to assess\u0000Knowledge Attitude Practices of clinical trial participants on reuse of genetic research data.\u0000\u0000\u0000\u0000The majority 70% of clinical trial participants were unsure about the difficulties\u0000that may arise in future regarding the re-use of genomic data, with concerns about confidentiality\u0000being the most common.\u0000\u0000\u0000\u0000The present study prioritized the involvement of clinical trial participants\u0000due to their critical role in both genetic and clinical research endeavors. There is a lack of\u0000awareness and understanding regarding the re-use of genetic sample data and ethical issues\u0000among the trial participants. Researchers must take measures to de-identify or anonymize\u0000data to protect participants. There is a clear need for comprehensive awareness\u0000programs and guidelines aimed at all clinical trial stakeholders. These initiatives would\u0000ensure that researchers, participants, and other involved parties are well-informed and adhere\u0000to ethical standards when utilizing genetic data for subsequent research endeavors.\u0000","PeriodicalId":11056,"journal":{"name":"Current Pharmacogenomics and Personalized Medicine","volume":"120 30","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-05-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141126681","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 : 2024-01-22DOI: 10.2174/0118756921285480240118051820
Neha Minocha, Satish Sardana
Exosomes and other extracellular vesicles (EVs) have emerged as versatile agents facilitating cell-to-cell communication, assuming pivotal roles in both physiological and pathological contexts. This manuscript presents an extensive overview of the existing knowledge concerning the utilization of exosomes and EVs in gene therapy and personalized healthcare. It delves into their inherent capacity for transferring genetic material, their limited immunogenicity, and their potential for precise and targeted delivery. Furthermore, the paper investigates the ever-evolving domain of biomarker discovery, where exosomes and EVs hold substantial promise for the early detection of diseases and the monitoring of treatment responses. As ongoing research advances, the manuscript explores the potential for refining protocols related to standardization and quality control, along with the optimization of scalable manufacturing methods. Additionally, the manuscript sheds light on the burgeoning potential for individualized treatments driven by genomic profiling. By examining these facets, we foresee that exosomes and EVs will play a pioneering role in ushering in a new era of precision medicine, offering safer, more efficacious, and highly customized therapeutic interventions across a spectrum of medical conditions.
{"title":"Exosome and Other Extracellular Vesicles in Gene Therapy and\u0000Personalized Care","authors":"Neha Minocha, Satish Sardana","doi":"10.2174/0118756921285480240118051820","DOIUrl":"https://doi.org/10.2174/0118756921285480240118051820","url":null,"abstract":"\u0000\u0000Exosomes and other extracellular vesicles (EVs) have emerged as versatile\u0000agents facilitating cell-to-cell communication, assuming pivotal roles in both physiological and pathological contexts. This manuscript presents an extensive overview of the existing knowledge concerning the utilization of exosomes and EVs in gene therapy and\u0000personalized healthcare. It delves into their inherent capacity for transferring genetic material, their limited immunogenicity, and their potential for precise and targeted delivery.\u0000Furthermore, the paper investigates the ever-evolving domain of biomarker discovery,\u0000where exosomes and EVs hold substantial promise for the early detection of diseases and\u0000the monitoring of treatment responses. As ongoing research advances, the manuscript explores the potential for refining protocols related to standardization and quality control,\u0000along with the optimization of scalable manufacturing methods. Additionally, the manuscript sheds light on the burgeoning potential for individualized treatments driven by genomic profiling. By examining these facets, we foresee that exosomes and EVs will play\u0000a pioneering role in ushering in a new era of precision medicine, offering safer, more efficacious, and highly customized therapeutic interventions across a spectrum of medical\u0000conditions.\u0000","PeriodicalId":11056,"journal":{"name":"Current Pharmacogenomics and Personalized Medicine","volume":"46 7","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-01-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139608419","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 : 2024-01-12DOI: 10.2174/0118756921286656231219095417
A. Yakubova, A. Rizvanov
Migraine is one of the most common diseases that significantly impairs the quality of life. This condition has a pronounced genetic component. Genes responsible for the development of monogenic forms of hemiplegic migraine have already been identified, and the search for genetic associations with common migraine and its subtypes continues. The aim of this study was to search for new potential genetic markers of migraine by analyzing available open genetic databases. The analysis included databases such as ClinVar, GWAS Catalog, UK Biobank, and FinnGen. In all databases, the keyword "migraine" was used to search for migraine- associated variants. Genetic variants with clinical annotations "pathogenic" and "likely pathogenic" were selected from the variants in the ClinVar database. From other databases, variants with an association significance level of p ≤ 5×10-8 were chosen. A total of 112 genetic variants associated with migraine were identified. After excluding polymorphisms known from previous migraine studies, it was found that 45 genetic variants were identified for the first time. These variants belong to various functional groups, including ion channels, enzymes, receptors, and regulatory proteins, supporting/confirming the current understanding of the polygenic nature of migraine. Identifying new genetic associations with migraine can contribute to a better understanding of its pathogenesis and open new possibilities for diagnosis and the development of more effective treatment strategies for this condition.
{"title":"Generalized Analysis of Open Genetic Databases Reveals New Associations with Migraine","authors":"A. Yakubova, A. Rizvanov","doi":"10.2174/0118756921286656231219095417","DOIUrl":"https://doi.org/10.2174/0118756921286656231219095417","url":null,"abstract":"\u0000\u0000Migraine is one of the most common diseases that significantly impairs the quality of life. This condition has a pronounced genetic component. Genes responsible for the development of monogenic forms of hemiplegic migraine have already been identified, and the search for genetic associations with common migraine and its subtypes continues.\u0000\u0000\u0000\u0000 The aim of this study was to search for new potential genetic markers of migraine by analyzing available open genetic databases.\u0000\u0000\u0000\u0000 The analysis included databases such as ClinVar, GWAS Catalog, UK Biobank, and FinnGen. In all databases, the keyword \"migraine\" was used to search for migraine- associated variants. Genetic variants with clinical annotations \"pathogenic\" and \"likely pathogenic\" were selected from the variants in the ClinVar database. From other databases, variants with an association significance level of p ≤ 5×10-8 were chosen.\u0000\u0000\u0000\u0000A total of 112 genetic variants associated with migraine were identified. After excluding polymorphisms known from previous migraine studies, it was found that 45 genetic variants were identified for the first time.\u0000\u0000\u0000\u0000 These variants belong to various functional groups, including ion channels, enzymes, receptors, and regulatory proteins, supporting/confirming the current understanding of the polygenic nature of migraine. Identifying new genetic associations with migraine can contribute to a better understanding of its pathogenesis and open new possibilities for diagnosis and the development of more effective treatment strategies for this condition.\u0000","PeriodicalId":11056,"journal":{"name":"Current Pharmacogenomics and Personalized Medicine","volume":"49 20","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-01-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139533197","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 : 2023-08-23DOI: 10.2174/1875692120666230823114511
Usha Subbiah, Athira Ajith, H. Subbiah
Cathelicidin, a human host defense peptide, plays a salubrious role in innate host defense against human pathogens. Despite the extensive studies on the antimicrobial function of Cathelicidin, there is a lack of information on this peptide's deleterious single nucleotide polymorphisms (SNPs) that potentially alter the disease susceptibility and hence the current study. To predict Cathelicidin's structural and functional deleterious non-synonymous single nucleotide polymorphisms. The non-synonymous SNPs of Cathelicidin were investigated using computational prediction tools like SIFT, Polyphen, PROVEAN, MusiteDeep, I-Mutant, and STRING. Results: The present study predicted 23 potentially harmful nsSNP of Cathelicidin. Among these, 14 were highly conserved, 8 were average conserved, and 1 alone was variable. Phosphorylation was observed in serine and threonine residues using post-translational modification. Further mutation 3D predicted 11 clustered and 13 covered mutations in cathelicidin variants. The structural distribution of high-risk nsSNPs predicted 80 alpha helixes, 0 random coils, 19 extended strands, and 4 beta turns. Among 23 predicted deleterious SNPs, 9 nsSNPs alone showed mutation effect based on the HOPE structural and functional analysis. The direct functional interaction pattern of Cathelicidin with other proteins, FPR2, PRTN3, TLR9, IGF1R, and JUN, was observed. The identified deleterious nsSNPs could help understand the mutation effect of Cathelicidin in disease susceptibility and drug discovery.
{"title":"Prediction Of Deleterious Non-Synonymous Single Nucleotide Polymorphism Of Cathelicidin","authors":"Usha Subbiah, Athira Ajith, H. Subbiah","doi":"10.2174/1875692120666230823114511","DOIUrl":"https://doi.org/10.2174/1875692120666230823114511","url":null,"abstract":"\u0000\u0000Cathelicidin, a human host defense peptide, plays a salubrious role in innate host defense against human pathogens. Despite the extensive studies on the antimicrobial function of Cathelicidin, there is a lack of information on this peptide's deleterious single nucleotide polymorphisms (SNPs) that potentially alter the disease susceptibility and hence the current study.\u0000\u0000\u0000\u0000To predict Cathelicidin's structural and functional deleterious non-synonymous single nucleotide polymorphisms.\u0000\u0000\u0000\u0000The non-synonymous SNPs of Cathelicidin were investigated using computational prediction tools like SIFT, Polyphen, PROVEAN, MusiteDeep, I-Mutant, and STRING. \u0000Results: The present study predicted 23 potentially harmful nsSNP of Cathelicidin. Among these, 14 were highly conserved, 8 were average conserved, and 1 alone was variable. Phosphorylation was observed in serine and threonine residues using post-translational modification. Further mutation 3D predicted 11 clustered and 13 covered mutations in cathelicidin variants. The structural distribution of high-risk nsSNPs predicted 80 alpha helixes, 0 random coils, 19 extended strands, and 4 beta turns. Among 23 predicted deleterious SNPs, 9 nsSNPs alone showed mutation effect based on the HOPE structural and functional analysis. The direct functional interaction pattern of Cathelicidin with other proteins, FPR2, PRTN3, TLR9, IGF1R, and JUN, was observed.\u0000\u0000\u0000\u0000The identified deleterious nsSNPs could help understand the mutation effect of Cathelicidin in disease susceptibility and drug discovery.\u0000","PeriodicalId":11056,"journal":{"name":"Current Pharmacogenomics and Personalized Medicine","volume":"42 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-08-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"88081576","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 : 2023-08-16DOI: 10.2174/1875692120666230816150545
S. Angaji, Tannaz Hemmati, B. Beikzadeh, H. Alibeik, R. Roudi, B. Narouie
Prostate cancer is one of the most commonly diagnosed malignancies in the developed world. Despite other risk factors like age, diet, environment and the pathogenesis of prostate cancer, recent advances in molecular genetics suggest that genetic inheritance plays an important role in prostate cancer. We attempted to analyze the association of SNPs rs4962416 and rs6465657 in the development of prostate cancer. A better understanding of the association of SNPs in prostate cancer susceptibility may improve risk prediction, improve precision mapping, and provide new insights into the underlying pathophysiology of prostate cancer. To date, no one has investigated these two SNPs in the Iranian populations, and according to the heterogeneity that exists, SNPs in communities should be examined separately. This case-control study includes 82 people with prostate adenocarcinoma as cases and 96 people with benign prostatic hyperplasia (BPH) as controls. Genotyping of each participant was done by TETRA ARMS-PCR method and for statistical analysis chi-squared, Fisher’s exact logistic regression was used to find the SNPs associated with prostate cancer. The frequency of the polymorphisms rs4962416 and rs6465657 in the prostate adenocarcinoma group was evaluated compared to the BPH control group (p-value < 0.05%) to choose the meaningful SNP. For rs4962416, we didn’t find any meaningful association with prostatic cancer (P=0.402) but for rs6465657 there was a significant difference between genotype frequency (P=0.001). rs6465657 polymorphism which is associated with prostate cancer, can be chosen as a biomarker for this cancer and there should be more investigation on this SNP as these results need to be confirmed in a larger population.
{"title":"Investigating the association of rs4962416 and rs6465657 with prostate adenocarcinoma in the Iranian population..","authors":"S. Angaji, Tannaz Hemmati, B. Beikzadeh, H. Alibeik, R. Roudi, B. Narouie","doi":"10.2174/1875692120666230816150545","DOIUrl":"https://doi.org/10.2174/1875692120666230816150545","url":null,"abstract":"\u0000\u0000Prostate cancer is one of the most commonly diagnosed malignancies in the developed world. Despite other risk factors like age, diet, environment and the pathogenesis of prostate cancer, recent advances in molecular genetics suggest that genetic inheritance plays an important role in prostate cancer.\u0000\u0000\u0000\u0000We attempted to analyze the association of SNPs rs4962416 and rs6465657 in the development of prostate cancer. A better understanding of the association of SNPs in prostate cancer susceptibility may improve risk prediction, improve precision mapping, and provide new insights into the underlying pathophysiology of prostate cancer. To date, no one has investigated these two SNPs in the Iranian populations, and according to the heterogeneity that exists, SNPs in communities should be examined separately.\u0000\u0000\u0000\u0000This case-control study includes 82 people with prostate adenocarcinoma as cases and 96 people with benign prostatic hyperplasia (BPH) as controls. Genotyping of each participant was done by TETRA ARMS-PCR method and for statistical analysis chi-squared, Fisher’s exact logistic regression was used to find the SNPs associated with prostate cancer.\u0000\u0000\u0000\u0000The frequency of the polymorphisms rs4962416 and rs6465657 in the prostate adenocarcinoma group was evaluated compared to the \u0000BPH control group (p-value < 0.05%) to choose the meaningful SNP.\u0000 For rs4962416, we didn’t find any meaningful association with prostatic cancer (P=0.402) but for rs6465657 there was a significant difference between genotype frequency (P=0.001).\u0000\u0000\u0000\u0000rs6465657 polymorphism which is associated with prostate cancer, can be chosen as a biomarker for this cancer and there should be more investigation on this SNP as these results need to be confirmed in a larger population.\u0000","PeriodicalId":11056,"journal":{"name":"Current Pharmacogenomics and Personalized Medicine","volume":"32 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-08-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"82484431","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 : 2023-08-16DOI: 10.2174/1875692120666230816152420
Goitybell Martínez, Yaima Zuñiga, Jonas Bybjerg, O. Mors, B. Marcheco
Several single nucleotide polymorphisms on methotrexate pathway have been implicated with hyperhomocysteinemia, susceptibility to autoimmune diseases and the therapy effectiveness of methotrexate. The present study estimates the ethnogeographic prevalence of rs1801133 (c.665C>T) in methylenetetrahydrofolate reductase and rs1051266 (c.80A>G) in solute carrier family 19 member 1, according to genomic ancestry analysis in Cuba healthy population. Genomic data was collected from a dense genome-wide genotyping array analysis of a large sample of individuals from all provinces of Cuba, with a final sample of 946 individuals for rs1801133 and 948 individuals for rs1051266. For rs1801133, T allele and TT genotype were more prevalent in Mayabeque, the province with the highest European (p<0.0001) and the lowest African ancestry proportion (p<0.0001). Whereas, T allele and TT genotype frequency were low in Guantánamo (23.7% and 1.8%), the province with the highest African ancestry proportion (p<0.0001) and the lowest European ancestry proportion (p<0.0001). For rs1051266, the higher frequency of G allele was observed in Villa Clara, Las Tunas, Holguín and Granma and this group was associated with AG and GG genotypes (p=0.0045). This seems to be related to high Native American ancestry proportion in Las Tunas (p<0.0001), Holguín (p<0.0001) and Granma (p<0.0001); with the low African ancestry proportion in Villa Clara (p<0.0001) and with a Native American ancestry-enriched pattern observed for these provinces (p=0.0005). These results provide evidence that ancestry contribution impacts in the ethnogeographic prevalence of rs1801133 (c.665C>T) and rs1051266 (c.80A>G) polymorphisms in healthy Cuban individuals.
{"title":"Single Nucleotide Polymorphisms of MTHFR (rs1051266) and SLC19A1 (rs1801133) Associated to Genomic Ancestry in Cuban Healthy Population","authors":"Goitybell Martínez, Yaima Zuñiga, Jonas Bybjerg, O. Mors, B. Marcheco","doi":"10.2174/1875692120666230816152420","DOIUrl":"https://doi.org/10.2174/1875692120666230816152420","url":null,"abstract":"Several single nucleotide polymorphisms on methotrexate pathway have been implicated with hyperhomocysteinemia, susceptibility to autoimmune diseases and the therapy effectiveness of methotrexate. The present study estimates the ethnogeographic prevalence of rs1801133 (c.665C>T) in methylenetetrahydrofolate reductase and rs1051266 (c.80A>G) in solute carrier family 19 member 1, according to genomic ancestry analysis in Cuba healthy population. Genomic data was collected from a dense genome-wide genotyping array analysis of a large sample of individuals from all provinces of Cuba, with a final sample of 946 individuals for rs1801133 and 948 individuals for rs1051266. For rs1801133, T allele and TT genotype were more prevalent in Mayabeque, the province with the highest European (p<0.0001) and the lowest African ancestry proportion (p<0.0001). Whereas, T allele and TT genotype frequency were low in Guantánamo (23.7% and 1.8%), the province with the highest African ancestry proportion (p<0.0001) and the lowest European ancestry proportion (p<0.0001). For rs1051266, the higher frequency of G allele was observed in Villa Clara, Las Tunas, Holguín and Granma and this group was associated with AG and GG genotypes (p=0.0045). This seems to be related to high Native American ancestry proportion in Las Tunas (p<0.0001), Holguín (p<0.0001) and Granma (p<0.0001); with the low African ancestry proportion in Villa Clara (p<0.0001) and with a Native American ancestry-enriched pattern observed for these provinces (p=0.0005). These results provide evidence that ancestry contribution impacts in the ethnogeographic prevalence of rs1801133 (c.665C>T) and rs1051266 (c.80A>G) polymorphisms in healthy Cuban individuals.","PeriodicalId":11056,"journal":{"name":"Current Pharmacogenomics and Personalized Medicine","volume":"2 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-08-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"81998253","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 : 2023-08-01DOI: 10.2174/1875692120666230811092856
Anna Vittoria Mattioli, Francesca Coppi, Valentina Bucciarelli, Milena Nasi, Marcello Pinti, Carla Palumbo, Sabina Gallina
Abstract: This commentary explores the reasons why sex and gender differences must be included in medical education and the impact on healthcare outcomes for patients. Understanding sex and gender differences could be useful in making more accurate diagnoses and to develop more effective treatment plans. Sex and gender medicine take into consideration both the genetic basis and the effects of exposure to environmental and socio-economic factors.
{"title":"Sex and Gender Differences in Medical Education: The Impact on Scientific Reports","authors":"Anna Vittoria Mattioli, Francesca Coppi, Valentina Bucciarelli, Milena Nasi, Marcello Pinti, Carla Palumbo, Sabina Gallina","doi":"10.2174/1875692120666230811092856","DOIUrl":"https://doi.org/10.2174/1875692120666230811092856","url":null,"abstract":"Abstract: This commentary explores the reasons why sex and gender differences must be included in medical education and the impact on healthcare outcomes for patients. Understanding sex and gender differences could be useful in making more accurate diagnoses and to develop more effective treatment plans. Sex and gender medicine take into consideration both the genetic basis and the effects of exposure to environmental and socio-economic factors.","PeriodicalId":11056,"journal":{"name":"Current Pharmacogenomics and Personalized Medicine","volume":"31 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135054635","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 : 2023-07-12DOI: 10.2174/1875692120666230712160812
P. Wal, A. Wal, Abhijit Sasmal, Riya Singh, Princy Yadav, Yogesh Singh, V. Garg
Biotin, a vitamin that is water-soluble, is part of the vitamin B complex and is required by all living things, including humans. Biotin-dependent carboxylases are a prosthetic group of enzymes, and biotin catalyzes essential processes in the production of fatty acids, the breakdown of amino acids, and gluconeogenesis in eukaryotic cells. The role of biotin as the prosthetic group of the four biotin-dependent carboxylases is well understood in higher animals. Based on the roles of these carboxylases in metabolism, it was discovered that biotin is required for cell survival, proliferation, and differentiation. Biotin appears to play a role in cell function and has a spermatogenic impact. Biotin has been found to have a direct impact on the transcription of important enzymes in glucose metabolism. Glucokinase and phosphoenolpyruvate carboxykinase are glycolytic enzymes that biotin controls (PEPCK). Biotin appears to be involved in gene control, which may explain some of its functions regarding fetal development and cellular biology. According to investigations using microarrays as well as other types of gene expression, biotin appears to affect the transcription of genes encoding cytokines and their receptors, glucose metabolism genes, and genes involved in cellular biotin homeostasis. A biotin shortage has a considerable effect on gene expression in numerous tissues and cells, according to a microarray study. Biotin supplementation affects the expression of several genes depending on the tissue, demonstrating that gene expression differences reflect tissue function. Biotin affects energy, lipid, and glucose metabolism, according to metabolite research, which has improved our understanding of the biotin metabolic pathway. Using microarray and transcriptome analysis, this research investigates the effect of biotin on gene expression.
{"title":"Regulatory Role, Mechanism, and Metabolic Profile of BIOTIN in Gene Expression","authors":"P. Wal, A. Wal, Abhijit Sasmal, Riya Singh, Princy Yadav, Yogesh Singh, V. Garg","doi":"10.2174/1875692120666230712160812","DOIUrl":"https://doi.org/10.2174/1875692120666230712160812","url":null,"abstract":"\u0000\u0000Biotin, a vitamin that is water-soluble, is part of the vitamin B complex and is required by all living things, including humans. Biotin-dependent carboxylases are a prosthetic group of enzymes, and biotin catalyzes essential processes in the production of fatty acids, the breakdown of amino acids, and gluconeogenesis in eukaryotic cells. The role of biotin as the prosthetic group of the four biotin-dependent carboxylases is well understood in higher animals. Based on the roles of these carboxylases in metabolism, it was discovered that biotin is required for cell survival, proliferation, and differentiation. Biotin appears to play a role in cell function and has a spermatogenic impact. Biotin has been found to have a direct impact on the transcription of important enzymes in glucose metabolism. Glucokinase and phosphoenolpyruvate carboxykinase are glycolytic enzymes that biotin controls (PEPCK). Biotin appears to be involved in gene control, which may explain some of its functions regarding fetal development and cellular biology. According to investigations using microarrays as well as other types of gene expression, biotin appears to affect the transcription of genes encoding cytokines and their receptors, glucose metabolism genes, and genes involved in cellular biotin homeostasis. A biotin shortage has a considerable effect on gene expression in numerous tissues and cells, according to a microarray study. Biotin supplementation affects the expression of several genes depending on the tissue, demonstrating that gene expression differences reflect tissue function. Biotin affects energy, lipid, and glucose metabolism, according to metabolite research, which has improved our understanding of the biotin metabolic pathway. Using microarray and transcriptome analysis, this research investigates the effect of biotin on gene expression.\u0000","PeriodicalId":11056,"journal":{"name":"Current Pharmacogenomics and Personalized Medicine","volume":"290 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-07-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"86427585","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 : 2023-06-02DOI: 10.2174/1875692120666230602115139
M. Naseri, E. Serki, A. Mansouri, M. Malekaneh
Several genetic alterations in cell growth regulatory genes, such as BRAF, are associated with colorectal cancer. Due to the introduction of biological agents designed to treat cancer, diagnostic tests using nucleic acids extracted from formalin-fixed and paraffin-embedded tissues are becoming more common. This study aimed to determine the incidence of BRAF mutations in colorectal cancer patients. 50 paraffin-embedded cancer specimens were obtained from Imam Reza Hospital of Birjand in Iran. PCR was used to amplify and sequence the BRAF gene exon 15, which was extracted from paraffin-embedded tissue using an improved technique. 2/43 (4%) of patients with colorectal cancer exhibited the BEAF V600E mutation. Most of the mutations occurred in patients over 50 years of age To understand how genetics and environment interact to influence the low incidence of BRAF mutations in the east of Iran, further research is needed to determine what is driving this low incidence of BRAF mutations and what factors contribute to it.
{"title":"Evaluation of BRAF mutations in patients with colorectal cancer in the east of Iran","authors":"M. Naseri, E. Serki, A. Mansouri, M. Malekaneh","doi":"10.2174/1875692120666230602115139","DOIUrl":"https://doi.org/10.2174/1875692120666230602115139","url":null,"abstract":"\u0000\u0000Several genetic alterations in cell growth regulatory genes, such as BRAF, are associated with colorectal cancer. Due to the introduction of biological agents designed to treat cancer, diagnostic tests using nucleic acids extracted from formalin-fixed and paraffin-embedded tissues are becoming more common.\u0000\u0000\u0000\u0000This study aimed to determine the incidence of BRAF mutations in colorectal cancer patients.\u0000\u0000\u0000\u000050 paraffin-embedded cancer specimens were obtained from Imam Reza Hospital of Birjand in Iran. PCR was used to amplify and sequence the BRAF gene exon 15, which was extracted from paraffin-embedded tissue using an improved technique.\u0000\u0000\u0000\u00002/43 (4%) of patients with colorectal cancer exhibited the BEAF V600E mutation. Most of the mutations occurred in patients over 50 years of age\u0000\u0000\u0000\u0000To understand how genetics and environment interact to influence the low incidence of BRAF mutations in the east of Iran, further research is needed to determine what is driving this low incidence of BRAF mutations and what factors contribute to it.\u0000","PeriodicalId":11056,"journal":{"name":"Current Pharmacogenomics and Personalized Medicine","volume":"44 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-06-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"86879808","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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