Abstract
Purpose
The purpose of this research was to study the association between the single nucleotide polymorphisms (SNPs) of the tektin-t gene and idiopathic asthenozoospermia.
Methods
We conducted sequence analyses of the tektin-t gene in 104 idiopathic asthenozoospermia and 102 fertile men with normospermic parameters in Sichuan, China.
Results
In this study, we found that allele 136 T (odds ratio [OR] 1.745, 95 % confidence interval [CI] 1.146–2.655, P = 0.009) was significantly increased in idiopathic asthenozoospermic patients compared with fertile men. This mutation substitutes a highly conserved arginine at position 46 to cysteine. Moreover, PolyPhen-2 analysis predicted that this variant was “probably damaging”. In addition, a novel heterozygous mutation, R207H (c.620G >A), was detected in five asthenozoospermic patients, while there was no detection of this genotype among the fertile candidates, indicating that the mutation was located within a conserved domain predicted by PolyPhen-2 analysis as “probably damaging” to the protein.
Conclusions
These results suggested that tektin-t variants (Arg/Cys + Cys/Cys) were probably one of the high risk genetic factors for idiopathic asthenozoospermia among males in Sichuan, China, while the R207H polymorphism may be associated with idiopathic asthenozoospermia risk.
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Acknowledgments
We thank the Affiliate Reproductive Hospital Genitalia Hygiene Research Center (Sichuan, China) for providing us with a platform for the analysis of the semen parameters, and we are grateful for the contributions of the patients and controls who participated in this study.
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Capsule These results suggested that tektin-t variants (Arg/Cys + Cys/Cys) were probably one of the high risk genetic factors for idiopathic asthenozoospermia among males in Sichuan, China, while the R207H polymorphism may be associated with idiopathic asthenozoospermia risk.
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Zhang, Sh., Zhang, Jh., Ding, Xp. et al. Association of polymorphisms in tektin-t gene with idiopathic asthenozoospermia in Sichuan, China. J Assist Reprod Genet 33, 181–187 (2016). https://doi.org/10.1007/s10815-015-0617-9
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DOI: https://doi.org/10.1007/s10815-015-0617-9