STAT4 single nucleotide gene polymorphisms and susceptibility to endometriosis-related infertility

Mohammad Zamani, Zamani MR, Mohammad Reza Zamani, Arash Salmaninejad, Firouzeh Akbari Asbagh, Akbari Asbagh F, Masoud A, Ahmad Masoud, Nima Rezaei
European journal of obstetrics, gynecology, and reproductive biology · 2016 · vol. 203 , pp. 20–24 · doi:10.1016/j.ejogrb.2016.05.003 · PMID:27235632 · W2353502176
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This study investigated the association between STAT4 single nucleotide gene polymorphisms and susceptibility to endometriosis-related infertility in women.

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Abstract

IntroductionEndometriosis is a multifactorial benign gynecologic disorder, characterized by the ectopic growth of misplaced endometrial cells with complex genetic inheritance and changing of some immune based factors and also shares some autoimmune characteristics. However, it is not clear yet that how and when these immunological factors affect the initiation or progression of the disease. It has been shown that STAT4 is a predisposing gene in the development of some autoimmune diseases.MethodThe study group comprised 114 patients with endometriosis and 92 sex-, age-, and ethnicity-matched healthy controls of Iranian ancestry. Four SNPs (rs7574865, rs7601754, rs7582694 and rs11889341) were genotyped using the MGB TaqMan.ResultsA significant association in rs7582694 between C allele (P=0.002, OR=1.986, 95% CI: 1.262-3.126) and endometriosis was found in our study, while the G allele (P=0.002, OR=0.0503, 95% CI: 0.319-0.792) was significantly decreased in the patients population. The GC genotype (P=0.004, OR=2.234, 95% CI: 1.301-4.150) was also significantly overrepresented in the patients with endometriosis, while the frequency of GG genotype was significantly lower in the patient group, compared to the controls (P=0.007, OR=0.457, 95% CI: 0.256-0.813).ConclusionsOur results for the first time showed a significant association between rs7582694 alleles and genotypes and susceptibility to endometriosis in a population.

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Condition tags

endometriosisinfertility

MeSH descriptors

Endometriosis Genetic Predisposition to Disease Infertility, Female Polymorphism, Single Nucleotide STAT4 Transcription Factor Adult Alleles Endometriosis Endometriosis Female Gene Frequency Genetic Association Studies Genotype Humans Infertility, Female Infertility, Female STAT4 Transcription Factor

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