Shao-hong Zhang1,2, Jian-hui Zhang3,4, Xian-ping Ding5,6,7, Shun Zhang3,4, Hong-han Chen3,4, Ya-ling Jing3,4. 1. 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. 2. Bio-Resource Research and Utilization Joint Key Laboratory of Sichuan and Chongqing, Chengdu, China. hnlyzhangsh@163.com. 3. Key Laboratory of Bio-Resources and Eco-Environment, Ministry of Education, School of Life Science, Institute of Medical Genetics, Sichuan University, Chengdu, China. 4. Bio-Resource Research and Utilization Joint Key Laboratory of Sichuan and Chongqing, Chengdu, China. 5. 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. 6. Bio-Resource Research and Utilization Joint Key Laboratory of Sichuan and Chongqing, Chengdu, China. brainding@scu.edu.cn. 7. Institute of Medical Genetics, College of Life Science, Sichuan University, Chengdu, 610064, China. brainding@scu.edu.cn.
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.
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.
Authors: P Asero; A E Calogero; R A Condorelli; L Mongioi'; E Vicari; F Lanzafame; R Crisci; S La Vignera Journal: J Endocrinol Invest Date: 2014-01-24 Impact factor: 4.256
Authors: Ivan A Adzhubei; Steffen Schmidt; Leonid Peshkin; Vasily E Ramensky; Anna Gerasimova; Peer Bork; Alexey S Kondrashov; Shamil R Sunyaev Journal: Nat Methods Date: 2010-04 Impact factor: 28.547