مشخصات پژوهش

عنوان	MTHFR-Ala222Valandmaleinfertility:astudy in Iranianmen, an updated meta-analysisand an insilico-analysis
نوع پژوهش	مقاله چاپ شده
کلیدواژه‌ها	Ala222Val polymorphism, idiopathic male infertility, in silico-analysis, Meta-analysis, Methylenetetrahydrofolate reductase gene
چکیده	Methylenetetrahydrofolate reductase (MTHFR) functions as a main regulatory enzyme in folate metabolism. The association of MTHFR gene Ala222Val polymorphism with male infertility in an Iranian population was investigated by undertaking a metaanalysis and in-silico approach. A genetic association study included 497 men; 242 had unexplained infertility and 255 were healthy controls. Polymerase chain reaction restriction fragment length polymorphism was used for genotyping MTHFR-Ala222Val. OpenMeta[Analyst] software was used to conduct the analysis; 22 studies were identified by searching PubMed and the currently reported genetic association study. A novel in-silico approach was used to analyse the effects of Ala222Val substitution on the structureofmRNAandprotein.GeneticassociationstudyrevealedasignificantassociationofMTHFR-222Val/Valgenotypewitholigozoospermia (OR 2.32; 95% CI, 1.12 to 4.78; P = 0.0451) and azoospermia (OR 2.59; 95% CI 1.09 to 6.17; P = 0.0314). Meta-analysis for allelic, dominant and codominant models showed a significant association between Ala222Val polymorphism and the risk of male infertility (P<0.001).Insilico-analysisshowedMTHFR-Ala222ValaffectsenzymestructureandcouldalsochangethemRNAproperties(P=0.1641; P < 0.2 is significant). The meta-analysis suggested significant association of MTHFR-Ala222Val with risk of male infertility, especially in Asian populations
پژوهشگران	اباصلت حسین زاده کلاگر (نفر پنجم)، مریم خوشخوان (نفر چهارم)، کبری ساربان (نفر سوم)، محمد کریمیان (نفر دوم)، حسین نیکزاد (نفر اول)