title: Association of theMTHFRC677T (rs1801133) polymorphism with idiopathic male infertility in a local Pakistani population.
abstract: The present study determined an association between idiopathic sperm disorders in a local Pakistani infertile male population and theMTHFRC677T polymorphism. After ruling out non genetic factors, a total of 437 idiopathic infertile men including 57 azoospermic, 66 oligospermic, 44 asthenozoospermic, 29 teratozoospermic, 20 oligoasthenospermic and 221 infertile normospermic men were recruited. Furthermore, 218 normospermic fertile men, who had two children (or more) were included as controls. The polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique was used to determineMTHFRC677T (rs1801133) polymorphism. A significant association of the minorMTHFR677T allele with male infertility was observed(p<0.05). In addition, men withMTHFR677 CT and TT genotypes were at a greater risk [odds ratio (OR): 1.81, 95% confidence interval (95% CI): 1.17-2.80,p= 0.008 and OR: 9.24, 95% CI: 1.20-70.92,p= 0.032, respectively] of infertility. All the subgroups of male infertility (azoospermic, oligospermic, asthenospermic, oligoasthenoteratospermic (OAT) and normospermic infertile) had significantly(p<0.05) higher frequencies of CT and TT genotypes when compared to fertile men. The combined genotypes (CT + TT) were also found significantly (OR: 2.01, 95% CI: 1.31-3.08,p<0.001) associated with male infertility. The results suggest that the polymorphism might be a factor of male infertility in the Pakistani population.
authors: Department of Zoology, Pir Mehr Ali Shah-Arid Agriculture University, Rawalpindi, Pakistan.
authors: M
authors: M
authors: Irfan
authors: Institute of Biomedical and Genetic Engineering (IBGE), Islamabad, Pakistan.
authors: M
authors: M
authors: Ismail
authors: Department of Zoology, Pir Mehr Ali Shah-Arid Agriculture University, Rawalpindi, Pakistan.
authors: M
authors: M
authors: Azhar Beg
authors: Biosciences, Commission on Science and Technology for Sustainable Development in the South (COMSAT), Institute of Information Technology, Islamabad, Pakistan.
authors: A
authors: A
authors: Shabbir
authors: Department of Zoology, Pir Mehr Ali Shah-Arid Agriculture University, Rawalpindi, Pakistan.
authors: A
authors: A
authors: Rashid Kayani
authors: Department of Biochemistry, Pir Mehr Ali Shah-Arid Agriculture University, Rawalpindi, Pakistan.
authors: G
authors: G
authors: Kaukab Raja
keywords: MTHFR; Male Infertility; Polymorphism; Reproduction; Sperm disorders