title: Genetic Association Between IL-21 Polymorphisms and Cryptorchidism in a Chinese Han Population.
abstract: OBJECTIVE
  Increasing evidence suggests an association between interleukin gene polymorphisms and cryptorchidism. To investigate the relationship between IL-21 gene polymorphisms and cryptorchidism susceptibility, a comprehensive genetic association study in a Chinese Han population was conducted.
  
  
  RESULTS
  A total of 328 men were enrolled in a case-control study (116 cases and 212 healthy controls). Three SNPs (rs907715, rs2055979, and rs12508721) of the IL-21 gene were genotyped using the TaqMan(®) genotyping assay. For the rs2055979 C>A polymorphism, A allele carriers had significantly decreased cryptorchidism susceptibility (p = 0.021, odds ratios [OR] = 0.58, 95% confidence intervals [CI] = 0.37-0.93) in a dominant model (AA+CA vs. CC), a codominant model (AC vs. CC; p = 0.029, OR = 0.52, 95% CI = 0.31-0.85), and an overdominant model (AC vs. CC/AA; p = 0.0087, OR = 0.53, 95% CI = 0.33-0.86). However, no associations were identified for the rs907715 C>T and rs12508721 C>A polymorphisms. In the haplotype analyses, the C-C-T haplotype of rs907715-rs2055979-rs12508721 significantly increased the risk of cryptorchidism (p < 0.0001, OR = 5.251, 95% CI = 2.528-10.906).
  
  
  CONCLUSIONS
  The rs2055979 C>A polymorphism of the IL-21 gene is associated with cryptorchidism susceptibility, and the C allele increases the risk of cryptorchidism in a Chinese Han population.
authors.affiliation: 1 Department of Medical Genetics, College of Basic Medical Science, Third Military Medical University , Chongqing, China .|2 Key Laboratory of Birth Defects and Reproductive Health of the National Health and Family Planning Commission (Chongqing Population and Family Planning Science and Technology Research Institute) , Chongqing, China .
authors.forename: Danyan
authors.initials: D
authors.lastname: Zhang
authors.affiliation: 2 Key Laboratory of Birth Defects and Reproductive Health of the National Health and Family Planning Commission (Chongqing Population and Family Planning Science and Technology Research Institute) , Chongqing, China .
authors.forename: Mingfu
authors.initials: M
authors.lastname: Ma
authors.affiliation: 3 Laboratory of Molecular Translational Medicine, West China Institute of Women and Children's Health, Key Laboratory of Obstetric & Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, West China Second University Hospital, Sichuan University , Chengdu, China .
authors.forename: Yan
authors.initials: Y
authors.lastname: Pu
authors.affiliation: 2 Key Laboratory of Birth Defects and Reproductive Health of the National Health and Family Planning Commission (Chongqing Population and Family Planning Science and Technology Research Institute) , Chongqing, China .
authors.forename: Lianbing
authors.initials: L
authors.lastname: Li
authors.affiliation: 4 Criminal Science & Technology Institute of Karamay Public Security Bureau , Karamay, Singkiang Uighur, China .
authors.forename: Gang
authors.initials: G
authors.lastname: Cao
authors.affiliation: 1 Department of Medical Genetics, College of Basic Medical Science, Third Military Medical University , Chongqing, China .
authors.forename: Yun
authors.initials: Y
authors.lastname: Bai
authors.affiliation: 3 Laboratory of Molecular Translational Medicine, West China Institute of Women and Children's Health, Key Laboratory of Obstetric & Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, West China Second University Hospital, Sichuan University , Chengdu, China .
authors.forename: Bin
authors.initials: B
authors.lastname: Zhou
mesh_terms: D044466:Asian People / Q000235:genetics; D016022:Case-Control Studies; D002681:China; D003456:Cryptorchidism / Q000235:genetics*; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007378:Interleukins / Q000235:genetics*; D008297:Male; D020641:Polymorphism, Single Nucleotide; D000098546:Interleukin-21
chemical_list: D007378:Interleukins; D000098546:Interleukin-21