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Association between MTHFR c.677C>T variant and erectile dysfunction among males attending fertility clinic

Asian Journal of Andrology 2024年第1期26卷 41-45页

作者： Shun Bai Ming-Zhen Li Yang-Yang Wan Xue-Chun Hu Yi-Xun Liu Xian-Hong Tong Tong-Hang Guo Lu Zong Ran Liu Yuan-Qi Zhao Ping Xiang Bo Xu Xiao-Hua Jiang Department of Gynecology and Obstetrics Reproductive and Genetic HospitalThe First Affiliated Hospital of University of Science and Technology of ChinaDivision of Life Sciences and MedicineUniversity of Science and Technology of ChinaHefei 230001China NHC Key Laboratory of Male Reproduction and genetics Guangdong Provincial Reproductive Science Institute(Guangdong Provincial Fertility Hospital)Guangzhou 510600China Department of Urology The First Affiliated Hospital of University of Science and Technology of ChinaDivision of Life Sciences and MedicineUniversity of Science and Technology of ChinaHefei 230001China Wannan Medical College Wuhu 241002China

genetic risk factors have been shown to contribute to the development of sexual ***,the role of methylenetetrahydrofolate reductase(MTHFR)gene variants in the risk of erectile dysfunction(ED)remains *** this study,we recruited 1254 participants who underwent ED assessed by the International Index of Erectile *** MTHFR c.677C>T variant was also measured by fluorescence polymerase chain reaction(PCR).No significant difference in the genotypic frequency of the MTHFR C677T polymorphism(CC,CT,and TT)was observed between men from the ED and non-ED *** addition,on binary logistic regression analysis,both crude and adjusted models showed that the risk of ED was not significantly associated with the C677T ***,a significantly higher frequency of the 677TT polymorphism was found in severe and moderate ED(P=O.02).The positive correlation between the MTHFR 677TT polymorphism and severe ED was confirmed by logistic regression analysis,even after adjusting for potential confounders(odds ratio[OR]=2.46,95%confidence interval[CI]:1.15-5.50,P=0.02).These findings suggest a positive correlation between the MTHFR 677TT polymorphism and the risk of severe *** of MTHFR gene polymorphisms may provide complementary information for ED patients during routineclinicaldiagnosis.

关键词： erectile dysfunction gene variant genetic risk factors methylenetetrahydrofolate reductase sexual function

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Progress and challenges in genome-wide studies to understand the genetics of diabetic retinopathy

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Annals of Eye Science 2018年第1期3卷 318-330页

作者： Kathryn P.Burdon Bennet J.McComish Jac C.Charlesworth Menzies Institute for Medical Research University of TasmaniaHobartAustralia

There are many advantages to understanding the genetics of human *** markers can be used to calculate the risk of developing a disease,and elucidation of genetic risk factors can pinpoint the molecular aetiology of disease,which can facilitate the development of targeted *** retinopathy(DR)is a common complication of diabetes that has a significant impact on quality of *** has a clear genetic component,but determination of the genetic risk factors has proven *** date,genome-wide studies for DR have been conducted on relatively small patient cohorts compared to other complex eye diseases and replication of genetic findings has been *** disease is highly heterogeneous,confounding attempts to classify patients into appropriate groups for genetic analysis and making direct comparisons between studies *** studies to determine the genetic causes of DR will need to focus on larger sample sizes,detailed phenotyping and appropriate classification of *** co-operation and meta-analyses combining data from multiple studies will be critical to the discovery of genetic risk loci for DR.

关键词： Genome-wide association study diabetic complications genetic risk factors diabetic retinopathy(DR)

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