<abstract xmlns="http://www.w3.org/1999/xhtml"><p>The present study determined an association between idiopathic sperm disorders in a local Pakistani infertile male population and the <italic>MTHFR</italic> C677T 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 determine <italic>MTHFR</italic> C677T (rs1801133) polymorphism. A significant association of the minor <italic>MTHFR</italic> 677T allele with male infertility was observed <italic>(p</italic> &lt;0.05). In addition, men with <italic>MTHFR</italic> 677 CT and TT genotypes were at a greater risk [odds ratio (OR): 1.81, 95% confidence interval (95% CI): 1.17-2.80, <italic>p</italic> = 0.008 and OR: 9.24, 95% CI: 1.20-70.92, <italic>p</italic> = 0.032, respectively] of infertility. All the subgroups of male infertility (azoospermic, oligospermic, asthenospermic, oligoasthenoteratospermic (OAT) and normospermic infertile) had significantly <italic>(p</italic> &lt;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, <italic>p</italic> &lt;0.001) associated with male infertility. The results suggest that the polymorphism might be a factor of male infertility in the Pakistani population.</p></abstract>

The present study determined an association between idiopathic sperm disorders in a local Pakistani infertile male population and the MTHFR C677T 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 determine MTHFR C677T (rs1801133) polymorphism. A significant association of the minor MTHFR 677T allele with male infertility was observed (p <0.05). In addition, men with MTHFR 677 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.

Association of the <italic>MTHFR</italic> C677T (rs1801133) polymorphism with idiopathic male infertility in a local Pakistani population

Department of Zoology, Pir Mehr Ali Shah-Arid Agriculture University, Rawalpindi,

Institute of Biomedical and Genetic Engineering (IBGE), Islamabad,

Biosciences, Commission on Science and Technology for Sustainable Development in the South (COMSAT), Institute of Information Technology, Islamabad,

Department of Biochemistry, Pir Mehr Ali Shah-Arid Agriculture University, Rawalpindi,

Balkan Journal of Medical Genetics

This article is distributed under the terms of the Creative Commons Attribution Non-Commercial License, which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

Association of the  C677T (rs1801133) polymorphism with idiopathic male infertility in a local Pakistani population

The present study determined an association between idiopathic sperm disorders in a local Pakistani infertile male population and the MTHFR C677T polymorphism....

Association of the MTHFR C677T (rs1801133) polymorphism with idiopathic male infertility in a local Pakistani population

Article Category: Original Article

Published Online: Aug 02, 2016

Page range: 51 - 62

DOI: https://doi.org/10.1515/bjmg-2016-0007

Keywords
Male Infertility, Polymorphism, Reproduction, Sperm disorders

© 2016 Walter de Gruyter GmbH, Berlin/Boston

This article is distributed under the terms of the Creative Commons Attribution Non-Commercial License, which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

Association of the MTHFR C677T (rs1801133) polymorphism with idiopathic male infertility in a local Pakistani population

Article Category: Original Article

Published Online: Aug 02, 2016

Page range: 51 - 62

DOI: https://doi.org/10.1515/bjmg-2016-0007

KeywordsMale Infertility, Polymorphism, Reproduction, Sperm disorders

© 2016 Walter de Gruyter GmbH, Berlin/Boston

This article is distributed under the terms of the Creative Commons Attribution Non-Commercial License, which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

Keywords
Male Infertility, Polymorphism, Reproduction, Sperm disorders