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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Authors | Shao-hong Zhang, Jian-hui Zhang, Xian-ping Ding, Shun Zhang, Hong-han Chen, Ya-ling Jing |
Journal | Journal of assisted reproduction and genetics
(J Assist Reprod Genet)
Vol. 33
Issue 2
Pg. 181-7
(Feb 2016)
ISSN: 1573-7330 [Electronic] Netherlands |
PMID | 26584823
(Publication Type: Journal Article)
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Chemical References |
- Microtubule Proteins
- tektins
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Topics |
- Adult
- Alleles
- Asthenozoospermia
(genetics, pathology)
- China
- Genetic Association Studies
- Genotype
- Humans
- Male
- Microtubule Proteins
(genetics)
- Mutation
- Polymorphism, Single Nucleotide
- Risk Factors
- Sperm Motility
(genetics)
- Spermatozoa
(pathology)
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