Association study between single-nucleotide variants rs12097821, rs2477686, and rs10842262 and idiopathic male infertili
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GENETICS
Association study between single-nucleotide variants rs12097821, rs2477686, and rs10842262 and idiopathic male infertility risk in Serbian population with meta-analysis Vucic Nemanja 1 & Dobrijevic Zorana 1 & Kotarac Nevena 1 & Matijasevic Suzana 1 & Vukovic Ivan 2 & Budimirovic Branko 3 & Djordjevic Mirka 3 & Savic-Pavicevic Dusanka 1 & Brajuskovic Goran 1 Received: 13 May 2020 / Accepted: 6 August 2020 # Springer Science+Business Media, LLC, part of Springer Nature 2020
Abstract Purpose A genome-wide association study conducted in the Han Chinese population identified three single nucleotide variants rs12097821, rs2477686, and rs10842262 as being significantly associated with non-obstructive azoospermia. Our aim was to evaluate the possible association between these susceptibility loci and idiopathic male infertility risk in the Serbian population. Methods A case-control study was conducted on 431 male individuals from the Serbian population divided into two groups. The case group consisted of 208 males diagnosed with oligoasthenozoospermia or non-obstructive azoospermia, while the control group involved 223 fertile men who have fathered at least one child. Results According to codominant (Pcodom = 0.048, ORcodom = 0.57, 95%CI 0.35–0.92) and overdominant (Poverdom = 0.017, ORoverdom = 0.62, 95%CI 0.42–0.92) genetic models, rs10842262 was found to be associated with male infertility. Stratifying infertile men according to diagnosis yielded statistically significant results for non-obstructive azoospermia cases under multiple genetic models (Pcodom = 0.038, ORcodom = 0.47, 95%CI 0.26–0.85; Pdom = 0.031, ORdom = 0.53, 95%CI 0.30–0.94; Poverdom = 0.016, ORoverdom = 0.55, 95%CI 0.33–0.90). Minor allele C of rs2477686 genetic variant was shown to be associated with the reduced risk of oligoasthenozoospermia under the log-additive genetic model (P = 0.03, OR = 0.69, 95%CI 0.50–0.97). The results of the meta-analysis indicate both rs2477686 and rs10842262 to be associated with male infertility. Conclusion Our results show variants rs2477686 and rs10842262 to be significantly associated with male infertility in the Serbian population. Nevertheless, case-control studies in other populations are needed to validate their association with infertility in males diagnosed with oligoasthenozoospermia and non-obstructive azoospermia. Keywords Male infertility . Genetic association . rs10842262 . rs2477686 . rs12097821 . Meta-analysis
Introduction Electronic supplementary material The online version of this article (https://doi.org/10.1007/s10815-020-01920-5) contains supplementary material, which is available to authorized users. * Brajuskovic Goran [email protected] 1
Centre for Human Molecular Genetics, Faculty of Biology, University of Belgrade, Studentski trg 16, PO Box 43, Belgrade 11 158, Serbia
2
Clinic of Urology, Clinical Center of Serbia, Belgrade, Serbia
3
“Academian Vojin Sulovic” Centre for In Vitro Fertilisation, General Hospital Valjevo, Valjevo, Serbia
Infertility, the major issue in reprod
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