title: Genetic analysis of HOXA11 gene in Chinese patients with cryptorchidism.
abstract: Cryptorchidism is the most common congenital anomaly in male children. Its aetiology remains unknown in the majority of cases. Because HOXA11 plays a vital role in regulating testicular descent, genetic variants in HOXA11 genes may contribute to the risk of cryptorchidism. In this study, mutation analysis was performed on the HOXA11 gene in a cohort of 89 patients with cryptorchidism. Furthermore, an association analysis of the HOXA11 tag single nucleotide polymorphism rs6461992 was performed in 168 patients with unilateral cryptorchidism and 193 controls. No pathogenic mutations were found. A significant difference in genotype and allele distribution was detected between cases and controls (p = .029 and .022 respectively). These results suggest that mutations in the coding sequence of HOXA11 might not be a common cause of cryptorchidism, while common polymorphisms in the HOXA11 gene might contribute to the risk of developing unilateral cryptorchidism.
authors.affiliation: Department of Urology, Children's Hospital of Chongqing Medical University, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing, China.
authors.forename: P
authors.initials: P
authors.lastname: Lu
authors.affiliation: Department of Reproduction and Infertility, Suizhou Central Hospital, Affiliated Hospital of Hubei University of Medicine, Suizhou, Hubei, China.
authors.forename: Y
authors.initials: Y
authors.lastname: Wang
authors.affiliation: School of Basic Medical Sciences, Chongqing Medical University, Chongqing, China.
authors.forename: F
authors.initials: F
authors.lastname: Wang
authors.affiliation: School of Basic Medical Sciences, Chongqing Medical University, Chongqing, China.
authors.forename: J
authors.initials: J
authors.lastname: Huang
authors.affiliation: School of Basic Medical Sciences, Chongqing Medical University, Chongqing, China.
authors.forename: Y
authors.initials: Y
authors.lastname: Zeng
authors.affiliation: Department of Urology, Children's Hospital of Chongqing Medical University, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing, China.
authors.forename: D
authors.initials: D
authors.lastname: He
authors.affiliation: School of Basic Medical Sciences, Chongqing Medical University, Chongqing, China.
authors.forename: H
authors.initials: H
authors.lastname: Huang
authors.affiliation: School of Basic Medical Sciences, Chongqing Medical University, Chongqing, China.
authors.forename: Z
authors.initials: Z
authors.lastname: Cheng
mesh_terms: D000483:Alleles; D044466:Asian People / Q000235:genetics; D002648:Child; D002681:China; D003456:Cryptorchidism / Q000235:genetics*; D004252:DNA Mutational Analysis; D005787:Gene Frequency; D056726:Genetic Association Studies; D005838:Genotype; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D020641:Polymorphism, Single Nucleotide
chemical_list: C484298:HOXA11 protein, human; D018398:Homeodomain Proteins
keywords: HOXA11; cryptorchidism; mutation screening; polymorphisms