Association of Novel Single Nucleotide Polymorphisms of Genes Involved in Cell Functions with Male Infertility: A Study of Male Cases in Northwest Iran

نویسندگانالهام غدیرخمی ، سید عبالحمید انگجی، مریم خسروی، محمدرضا مشایخی
نشریهJournal of Reproduction & Infertility
كد DOI/DORhttp://dx.doi.org/10.18502/jri.v22i4.7651
نوع مقالهFull Paper
تاریخ انتشارJun. 29, 2021
رتبه نشریهISI
نوع نشریهچاپی
کشور محل چاپایران

چکیده مقاله

Abstract
Background: Infertility is a global health problem caused by various environmental
and genetic factors. Male infertility accounts for 40–50% of all cases of infertility
and approximately half of them are grouped as idiopathic with no definitive causes.
Previous studies have suggested an association between some SNPs and infertility in
men. In this study, an attempt was made to investigate the association of 7 different
SNPs of 4 genes involved in common cell functions with male infertility.
Methods: MTHFR rs1801131 (T>G), MTHFR rs2274976 (G>A), FASLG rs80358238
(A>G), FASLG rs12079514 (A>C), GSTM1 rs1192077068 (G>A), BRCA2 rs4987117
(C>T), and BRCA2 rs11571833 (A>T) were genotyped in 120 infertile men with idiopathic
azoospermia
or
severe
oligospermia
and
120
proven
fertile
controls

using
ARMS-PCR methods. Next, 30% of SNPs were regenotyped to confirm the results.
Odds ratios (ORs) with 95% confidence intervals (CIs) were calculated using SPSS
statistical software to evaluate the strength of association. The p˂0.05 were considered
statistically
significant.

Results:

Statistical analysis revealed significant association between MTHFR rs2274976
AA
variant
(OR:
10.00,
CI:
3.203-31.225),
FASLG
rs12079514
AC
variant

(OR:
0.412,

CI: 0.212-0.800), and BRCA2 rs11571833 TT variant OR: 6.233, CI:
3.211-12.101) with male infertility, but there was no significant difference between
case and control groups in MTHFR rs1801131 (p= 0.111), GSTM1 rs1192077068
(p=0.272), BRCA2 rs4987117 (p=0.221), and FASLG rs80358238 (p=0.161).
Conclusion: Our findings suggested that some novel polymorphisms including
MTHFR rs2274976, FASLG rs12079514, and BRCA2 rs11571833 might be the
possible predisposing risk factors for male infertility in cases with idiopathic azoospermia.


Keywords: BRCA2, FASLG, Genetic variation, GSTM1, Male infertility, MTHFR.
To cite this article: Ghadirkhomi E, Angaji SA, Khosravi M, Mashayekhi MR. Association
of Novel Single Nucleotide Polymorphisms of Genes Involved in Cell Functions with Male
Infertility: A Study of Male Cases in Northwest Iran. J Reprod Infertil. 2021;22(4):258-266.
http://dx.doi.org/10.18502/jri.v22i4.7651.

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