Polymorphisms in estrogen receptors predict the risk of male infertility: a meta-analysis
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RESEARCH
Open Access
Polymorphisms in estrogen receptors predict the risk of male infertility: a meta-analysis Tian-Fu Li, Qiu-Yue Wu, Cui Zhang, Wei-Wei Li, Na Li, Ying-Xia Cui, Xiao-Jun Li and Xin-Yi Xia*
Abstract Background: Estrogen receptors play an important role in mediating estrogen action on target tissues, and the estrogen is relevant to male infertility. Single nucleotide polymorphisms (SNPs) in estrogen receptors may be associated with the risk of male infertility. A variety of case control studies have been published evaluating this association. However, the accumulated studies have shown inconsistent conclusions. Methods: To further determine the potential association between the four common SNPs (rs2234693, rs9340799, rs1256049 and rs4986938) in estrogen receptors gene and male infertility, this meta-analysis was performed according to the 10 published case control studies. The odds ratio (OR) and 95% confidence interval (CI) were used to evaluate the strength of the associations. Results: It was revealed that the sub-group analysis by the ethnicity, for the rs2234693, a significant association in the comparison of CC vs. TT (OR = 0.61, 95% CI: 0.40-0.93), CT vs. TT (OR = 0.67, 95% CI: 0.49-0.93) and CC + CT vs. TT (OR = 0.66, 95% CI: 0.49-0.89) in the Asian population with male infertility. For rs9340799 polymorphism, increased risks were observed for the comparison of AA vs. GG (OR = 1.75, 95% CI: 1.15-2.68) and AA vs. GA + GG (OR = 1.38, 95% CI: 1.02-1.88). For rs1256049 polymorphism, the comparison of the GA vs. GG (OR = 1.52, 95% CI: 1.00-2.31) and AA + GA vs. GG (OR = 1.74, 95% CI: 1.03-2.94), also increased risks present in Asian and Caucasian population, respectively. Conclusions: The rs2234693C allele was associated with the decreased risk for male infertility; however, the rs9340799AA genotype and the rs1256049GA genotype were associated with an increased risk for male infertility. Keywords: Male infertility, Polymorphisms, Estrogen receptors
Background Male infertility is an important cause of couple’s inability to bear children in 20% to 25% of total cases and the etiology of nearly half of the cases remains idiopathic [1,2]. Approximately 15% of male infertile cases, genetic factors, including chromosomal aberrations and single gene mutations, may result in spermatogenic failure and sperm dysfunction [3,4]. The traditional view of estradiol as the ‘female’ hormone and of testosterone as the ‘male’ hormone has been challenged due to the increased interest in elucidating the role of estrogen in males [5]. Estrogens are produced in the male reproductive system by Sertoli cells, Leydig cells, and germ cells [6,7]. In addition, studies revealed that estrogens reduce testosterone production from * Correspondence: [email protected] Department of Reproduction and Genetics, Institute of Laboratory Medicine, Jinling Hospital, Nanjing University School of Medicine, Nanjing 210002, PR China
Leydig cells and reduce Sertoli cell numbers in adult when they are given during development [8,9]. Th
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