Balkan Journal of Medical Genetics

ASSOCIATION OF THE MTHFR C677T (rs1801133) POLYMORPHISM WITH IDIOPATHIC MALE INFERTILITY IN A LOCAL PAKISTANI POPULATION
Irfan M, Ismail M, Azhar Beg M, Shabbir A, Rashid Kayani A, Kaukab Raja G
*Corresponding Author: Muhammad Irfan, M.Phil., Department of Zoology, Pir Mehr Ali Shah Arid Agriculture University Rawalpindi, Pakistan. Tel: +92-344-551-8382. Email: muhammadirfan11@gmail.com
page: 51

CONCLUSIONS

The present study of the association between idiopathic sperm disorders and the MTHFR 677T polymorphism suggests that the polymorphism might be a factor of male infertility in Pakistan. The results showed a signiﬁcantly (p <0.05) higher T allele and gene frequencies in the infertile men as compared to the fertile men. Furthermore, the carriers of the T allele were more in all semen groups of infertile men as compared to the control group. Association of male infertility with MTHFR C677T polymorphisms provokes investigation of the effects of folic acid supplementation in infertile men on sperm parameters. However, the present study is about only one ethnic group in Pakistan, which was self-deﬁned by the subjects, while, MTHFR 677T frequencies in the Pakistani populations have been reported to be greatly variable and may inﬂuence the frequencies of SNPs. Therefore, studies must be conducted to investigate the association of SNPs also at the ethnic level. Secondly, the screening of infertile men must include karyotyping that was not done in the present study. We suggest that further studies must consider folate levels and folate supplementation while selecting subjects in genetic studies. Similarly, the studies must consider other well deﬁned factors of reproductive health, general health and lifestyle factors in exclusion criteria. Further research, analyzing multiple fertility regions/loci in idiopathic infertile men is also required through high throughput analyzers, i.e., microarray, etc. Declaration of Interest. The authors report no conﬂicts of interest. The authors alone are responsible for the content and writing of this article.

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