title: Association of polymorphisms in tektin-t gene with idiopathic asthenozoospermia in Sichuan, China.
abstract: OBJECTIVE
  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.affiliation: 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.|Bio-Resource Research and Utilization Joint Key Laboratory of Sichuan and Chongqing, Chengdu, China. hnlyzhangsh@163.com.
authors.forename: Shao-hong
authors.initials: SH
authors.lastname: Zhang
authors.affiliation: Key Laboratory of Bio-Resources and Eco-Environment, Ministry of Education, School of Life Science, Institute of Medical Genetics, Sichuan University, Chengdu, China.|Bio-Resource Research and Utilization Joint Key Laboratory of Sichuan and Chongqing, Chengdu, China.
authors.forename: Jian-hui
authors.initials: JH
authors.lastname: Zhang
authors.affiliation: 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.|Bio-Resource Research and Utilization Joint Key Laboratory of Sichuan and Chongqing, Chengdu, China. brainding@scu.edu.cn.|Institute of Medical Genetics, College of Life Science, Sichuan University, Chengdu, 610064, China. brainding@scu.edu.cn.
authors.forename: Xian-ping
authors.initials: XP
authors.lastname: Ding
authors.affiliation: Key Laboratory of Bio-Resources and Eco-Environment, Ministry of Education, School of Life Science, Institute of Medical Genetics, Sichuan University, Chengdu, China.|Bio-Resource Research and Utilization Joint Key Laboratory of Sichuan and Chongqing, Chengdu, China.
authors.forename: Shun
authors.initials: S
authors.lastname: Zhang
authors.affiliation: Key Laboratory of Bio-Resources and Eco-Environment, Ministry of Education, School of Life Science, Institute of Medical Genetics, Sichuan University, Chengdu, China.|Bio-Resource Research and Utilization Joint Key Laboratory of Sichuan and Chongqing, Chengdu, China.
authors.forename: Hong-han
authors.initials: HH
authors.lastname: Chen
authors.affiliation: Key Laboratory of Bio-Resources and Eco-Environment, Ministry of Education, School of Life Science, Institute of Medical Genetics, Sichuan University, Chengdu, China.|Bio-Resource Research and Utilization Joint Key Laboratory of Sichuan and Chongqing, Chengdu, China.
authors.forename: Ya-ling
authors.initials: YL
authors.lastname: Jing
mesh_terms: D000328:Adult; D000483:Alleles; D053627:Asthenozoospermia / Q000235:genetics* / Q000473:pathology; D002681:China; D056726:Genetic Association Studies; D005838:Genotype; D006801:Humans; D008297:Male; D008868:Microtubule Proteins / Q000235:genetics*; D009154:Mutation; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors; D013081:Sperm Motility / Q000235:genetics*; D013094:Spermatozoa / Q000473:pathology
chemical_list: D008868:Microtubule Proteins; C044103:tektins
keywords: Asthenozoospermia; Genetic polymorphisms; Sperm motility; Tektin-t