• PMID: 26584823
• Gene Name: TEKT2
• Condition: Idiopathic asthenozoospermia, Male infertility
• Association: Associated
• Mutation: R207H (c.620G >A)
• Population size: 206
• Population details: 206 (104 idiopathic asthenozoospermia, 102 fertile men)
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Idiopathic asthenozoospermia, Male infertility

Association of polymorphisms in tektin-t gene with idiopathic asthenozoospermia in Sichuan, China

Zhang SH, Zhang JH, Ding XP, Zhang S, Chen HH, Jing YL.

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. FAU - Zhang, Shao-hong AU - Zhang SH AD - Key Laboratory of Bio-Resources and Eco-Environment, Ministry of Education, School of Life Science, Institute of Medical Genetics, Sichuan University, Chengdu, China. hnlyzhangsh@163.com. AD - Bio-Resource Research and Utilization Joint Key Laboratory of Sichuan and Chongqing, Chengdu, China. hnlyzhangsh@163.com. FAU - Zhang, Jian-hui AU - Zhang JH AD - Key Laboratory of Bio-Resources and Eco-Environment, Ministry of Education, School of Life Science, Institute of Medical Genetics, Sichuan University, Chengdu, China. AD - Bio-Resource Research and Utilization Joint Key Laboratory of Sichuan and Chongqing, Chengdu, China. FAU - Ding, Xian-ping AU - Ding XP AD - Key Laboratory of Bio-Resources and Eco-Environment, Ministry of Education, School of Life Science, Institute of Medical Genetics, Sichuan University, Chengdu, China. brainding@scu.edu.cn. AD - Bio-Resource Research and Utilization Joint Key Laboratory of Sichuan and Chongqing, Chengdu, China. brainding@scu.edu.cn. AD - Institute of Medical Genetics, College of Life Science, Sichuan University, Chengdu, 610064, China. brainding@scu.edu.cn. FAU - Zhang, Shun AU - Zhang S AD - Key Laboratory of Bio-Resources and Eco-Environment, Ministry of Education, School of Life Science, Institute of Medical Genetics, Sichuan University, Chengdu, China. AD - Bio-Resource Research and Utilization Joint Key Laboratory of Sichuan and Chongqing, Chengdu, China. FAU - Chen, Hong-han AU - Chen HH AD - Key Laboratory of Bio-Resources and Eco-Environment, Ministry of Education, School of Life Science, Institute of Medical Genetics, Sichuan University, Chengdu, China. AD - Bio-Resource Research and Utilization Joint Key Laboratory of Sichuan and Chongqing, Chengdu, China.