title: Association between SNP12 in estrogen receptor α gene and hypospadias: a systematic review and meta-analysis.
abstract: To investigate the association between single nucleotide polymorphism 12 in estrogen receptor α gene and hypospadias, four databases (PubMed, Web of Science, Embase and Cochrane Library) were electronically searched by 2nd November 2015. Finally, four studies were included for our meta-analysis, involving 1379 cases and 1648 controls. A quality assessment was performed using the Newcastle-Ottawa Scale of case-control study. Meta-analysis and publication bias measuring were all done by Stata 12.0. No significant publication bias (PBegg = 0.296, PEgger = 0.161) was found. Overall, there was statistically significant association for recessive genetic model (AA vs. GA + GG: OR 3.45, 95 % CI [1.89, 6.30], P = 0.038). Moreover, the positive result was confirmed using trial sequential analysis even only three original studies. For allele model, there was also statistically significant association (allele A vs. G: OR 1.43, 95 % CI [1.23, 1.67], P = 0.034). Meanwhile, A allele as a risk factor turned out to be true positive by trial sequential analysis. In a word, this meta-analysis suggested that the single nucleotide polymorphism 12 definitely increase the risk of hypospadias.
authors.affiliation: Department of Pediatric Surgery, Chengdu Women's and Children's Central Hospital, Chengdu, 610091 China ; Department of Urology Surgery, Children's Hospital of Chongqing Medical University, Ministry of Education Key Laboratory of Child Development and Disorder, Key Laboratory of Pediatrics in Chongqing (CSTC2009CA5002), Chongqing International Science and Technology Cooperation Center for Child Development and Disorders, Chongqing, 400014 China.
authors.forename: Changkai
authors.initials: C
authors.lastname: Deng
authors.affiliation: Chengdu Center for Disease Control and Prevention, No. 4, Longxiang RD, Wuhou District, Chengdu, 610041 China.
authors.forename: Rong
authors.initials: R
authors.lastname: Dai
authors.affiliation: Department of Urology Surgery, Children's Hospital of Chongqing Medical University, Ministry of Education Key Laboratory of Child Development and Disorder, Key Laboratory of Pediatrics in Chongqing (CSTC2009CA5002), Chongqing International Science and Technology Cooperation Center for Child Development and Disorders, Chongqing, 400014 China.
authors.forename: Xuliang
authors.initials: X
authors.lastname: Li
authors.affiliation: Department of Urology Surgery, Children's Hospital of Chongqing Medical University, Ministry of Education Key Laboratory of Child Development and Disorder, Key Laboratory of Pediatrics in Chongqing (CSTC2009CA5002), Chongqing International Science and Technology Cooperation Center for Child Development and Disorders, Chongqing, 400014 China.
authors.forename: Feng
authors.initials: F
authors.lastname: Liu
keywords: ESR1; Hypospadias; Meta-analysis; SNP12; Trail sequential analysis