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

RESULTS

Genotype distribution of the MTHFR 677C>T polymorphism of the 655 subjects analyzed: 472 (72.06%) subjects were homozygous for the C allele (CC), 166 (25.34%) subjects were heterozygous (CT), and 17 (2.60%) subjects were homozygous for the T allele (TT). The minor allele (T) frequency of the MTHFR 677C>T polymorphism was 0.153, and the genotype distributions did not deviate from the Hardy-Weinberg equilibrium (p >0.05) (Tables 1 and 2). Prevalence and Odds Ratios of Male Infertility According to Carriers of the Minor Allele of the MTHFR C677T Polymorphism. a) Allele frequencies. The relative MTHFR 677 allele and genotype frequencies of the individual risk factors of the male infertility in the total populations are summarized in Tables 1 and 2. Results show that the MTHFR C>T polymorphism increases the odds ratio (OR) [2.12, 95% conﬁdence interval (95% CI): 1.38-3.92] of male infertility signiﬁcantly (p <0.05). In addition, after classifying the men into different infertility groups, allelic frequencies were signiﬁcantly different between infertile and fertile men. The minor allele (T) frequency was highest in teratospermic men (0.293%), followed by oligospermic (0.280%), oligoasthenoteratospermic (OAT) (0.275%), asthenospermic (0.273%), azoospermia (0.210%), normospermic infertile (0.124%) and fertile men (0.073%) (Table 1). Genotype Frequencies. According to Table 2, men with MTHFR 677 CT and TT genotypes are at a greater risk (OR: 1.81, 95 %CI: 1.17-2.80, p = 0.008 and OR: 9.24, 95% CI: 1.20-70.92, p = 0.032, respectively) of male infertility. All the subgroups of male infertility (azoospermic, oligospermic, asthenospermic, OAT and normospermic infertile) had signiﬁcantly (p <0.05) higher frequencies of CT and TT genotype as compared to fertile men. The combined genotypes (CT + TT) were also found to be signiﬁcantly associated with male infertility (OR: 2.01, 95 %CI: 1.31-3.08, p <0.001) (Table 2).

Number 27 VOL. 27 (2), 2024	Number 27 VOL. 27 (1), 2024
Number 26 Number 26 VOL. 26(2), 2023 All in one	Number 26 VOL. 26(2), 2023
Number 26 VOL. 26, 2023 Supplement	Number 26 VOL. 26(1), 2023
Number 25 VOL. 25(2), 2022	Number 25 VOL. 25 (1), 2022
Number 24 VOL. 24(2), 2021	Number 24 VOL. 24(1), 2021
Number 23 VOL. 23(2), 2020	Number 22 VOL. 22(2), 2019
Number 22 VOL. 22(1), 2019	Number 22 VOL. 22, 2019 Supplement
Number 21 VOL. 21(2), 2018	Number 21 VOL. 21 (1), 2018
Number 21 VOL. 21, 2018 Supplement	Number 20 VOL. 20 (2), 2017
Number 20 VOL. 20 (1), 2017	Number 19 VOL. 19 (2), 2016
Number 19 VOL. 19 (1), 2016	Number 18 VOL. 18 (2), 2015
Number 18 VOL. 18 (1), 2015	Number 17 VOL. 17 (2), 2014
Number 17 VOL. 17 (1), 2014	Number 16 VOL. 16 (2), 2013
Number 16 VOL. 16 (1), 2013	Number 15 VOL. 15 (2), 2012
Number 15 VOL. 15, 2012 Supplement	Number 15 Vol. 15 (1), 2012
Number 14 14 - Vol. 14 (2), 2011	Number 14 The 9th Balkan Congress of Medical Genetics
Number 14 14 - Vol. 14 (1), 2011	Number 13 Vol. 13 (2), 2010
Number 13 Vol.13 (1), 2010	Number 12 Vol.12 (2), 2009
Number 12 Vol.12 (1), 2009	Number 11 Vol.11 (2),2008
Number 11 Vol.11 (1),2008	Number 10 Vol.10 (2), 2007
Number 10 10 (1),2007	Number 9 1&2, 2006
Number 9 3&4, 2006	Number 8 1&2, 2005
Number 8 3&4, 2004	Number 7 1&2, 2004
Number 6 3&4, 2003	Number 6 1&2, 2003
Number 5 3&4, 2002	Number 5 1&2, 2002
Number 4 Vol.3 (4), 2000	Number 4 Vol.2 (4), 1999
Number 4 Vol.1 (4), 1998	Number 4 3&4, 2001
Number 4 1&2, 2001	Number 3 Vol.3 (3), 2000
Number 3 Vol.2 (3), 1999	Number 3 Vol.1 (3), 1998
Number 2 Vol.3(2), 2000	Number 2 Vol.1 (2), 1998
Number 2 Vol.2 (2), 1999	Number 1 Vol.3 (1), 2000
Number 1 Vol.2 (1), 1999	Number 1 Vol.1 (1), 1998

About the journal ::: Editorial ::: Subscription ::: Information for authors ::: Contact