Genetic variation of the E-cadherin gene is associated with primary infertility in patients with ovarian endometriosis

Shan Kang, Kang S, Yan Li, Li Y, Bin Li, Li B, Wang N, Na Wang, Rong‐Miao Zhou, Rong-miao Zhou, Zhou RM, Xi-Wa Zhao, Zhao XW, Xiwa Zhao
Fertility and sterility · 2014 · vol. 102(4) , pp. 1149–1154.e1 · doi:10.1016/j.fertnstert.2014.07.005 · PMID:25150394 · W1980448833
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This study investigated the genetic variation of the E-cadherin gene and found it is associated with primary infertility in patients diagnosed with ovarian endometriosis.

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Abstract

ObjectiveTo explore the association between the genetic variant of E-cadherin gene and endometriosis-related infertility.DesignCase-control study.SettingUniversity hospital.Patient(s)Five hundred eighty-nine women with ovarian endometriosis including 127 patients with primary infertility and 589 female controls in northern China.Intervention(s)None.Main outcome measure(s)Single nucleotide polymorphisms (SNPs) in the promoter region, exons, and the 3' untranslated region of the E-cadherin gene were identified by direct sequencing in patients with ovarian endometriosis and with polymerase chain reaction (PCR). Six candidate SNPs (rs16260, rs28372783, rs1801552, rs1801026, rs8049282, and rs13689) were genotyped by PCR and ligase detection reaction.Result(s)The results revealed a significant association of rs8049282 SNP on E-cadherin gene with endometriosis-related infertility. When compared with control women or endometriosis patients who had a history of successful fertility, the CC genotype of rs8049282 may significantly increase the risk of primary infertility in patients with ovarian endometriosis (adjusted odds ratio [OR] = 2.70, 95% confidence interval [CI] 1.45-5.00; OR = 2.54, 95% CI 1.45-4.44, respectively).Conclusion(s)Our results suggested that genetic variants on the E-cadherin gene may be involved in endometriosis-related infertility. The rs8049282 SNP of the E-cadherin gene may be a potential molecular marker for the development of primary infertility in northern Chinese women with ovarian endometriosis.

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Condition tags

endometriosisinfertility

MeSH descriptors

Cadherins Endometriosis Fertility Infertility, Female Ovarian Diseases Polymorphism, Single Nucleotide 3' Untranslated Regions Antigens, CD Cadherins Case-Control Studies China Chi-Square Distribution Endometriosis Endometriosis Endometriosis Endometriosis Exons Female Fertility Gene Frequency

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