Endometriosis 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.
The 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.
A 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).
Our results for the first time showed a significant association between rs7582694 alleles and genotypes and susceptibility to endometriosis in a population.
To read this article in full you will need to make a payment
Purchase one-time access:Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online access
One-time access price info
- For academic or personal research use, select 'Academic and Personal'
- For corporate R&D use, select 'Corporate R&D Professionals'
Subscribe:Subscribe to European Journal of Obstetrics and Gynecology and Reproductive Biology
Already a print subscriber? Claim online access
Already an online subscriber? Sign in
Register: Create an account
Institutional Access: Sign in to ScienceDirect
- The effect of hormones on endometriosis development.Minerva Ginecol. 2011; 63: 375-386
- OC-125 immunostaining in endometriotic lesion samples.Arch Gynecol Obstet. 2010; 281: 43-47
- Functional genetic polymorphisms and female reproductive disorders: part II – endometriosis.Hum Reprod Update. 2009; 15: 97-118
- Genetic polymorphisms and endometriosis: contribution of genes that regulate vascular function and tissue remodeling.Rev Assoc Med Bras. 2012; 58: 620-632
- Insights into assessing the genetics of endometriosis.Curr Obstet Gynecol Rep. 2012; 1: 124-137
- Lymphocytes in endometriosis.Am J Reprod Immunol. 2011; 65: 1-10
- Is there an association between autoimmunity and endometriosis?.Autoimmun Rev. 2012; 11: 806-814
- STAT4 isoforms differentially regulate Th1 cytokine production and the severity of inflammatory bowel disease.J Immunol. 2008; 181: 5062-5070
- Association of STAT4 with susceptibility to rheumatoid arthritis and systemic lupus erythematosus in the Japanese population.Arthr Rheum. 2008; 58: 1940-1946
- Association of the STAT4 gene with increased susceptibility for some immune-mediated diseases.Arthr Rheum. 2008; 58: 2598-2602
- Th1 and Th2 immune responses related to pelvic endometriosis.Rev Assoc Med Bras. 2010; 56: 92-98
- STAT4: genetics, mechanisms, and implications for autoimmunity.Curr Allergy Asthma Rep. 2008; 8: 398-403
- Association of PTPN22 rs2476601 and STAT4 rs7574865 polymorphisms with rheumatoid arthritis: a meta-analysis update.Immunobiology. 2015; 220: 1012-1024
- STAT4 rs7574865 polymorphism contributes to the risk of type 1 diabetes: a meta analysis.Int J Clin Exp Med. 2015; 8: 2471-2475
- A meta-analysis of the association of STAT4 polymorphism with systemic lupus erythematosus.Mod Rheumatol. 2010; 20: 257-262
- Meta-analysis reveals an association of STAT4 polymorphisms with systemic autoimmune disorders and anti-dsDNA antibody.Hum Immunol. 2013; 74: 986-992
- Retracted association of STAT4 gene polymorphism with systemic lupus erythematosus/lupus nephritis risk.Nephrology (Carlton). 2014;
- Endometriosis and autoimmune disease: association of susceptibility to moderate/severe endometriosis with CCL21 and HLA-DRB1.Fertil Steril. 2011; 95: 437-440
- Revised American society for reproductive medicine classification of endometriosis: 1996.Fertil Steril. 1997; 67: 817-821
- Treating endometriosis as an autoimmune disease.Fertil Steril. 2001; 76: 223-231
- Pathogenesis of endometriosis: natural immunity dysfunction or autoimmune disease?.Trends Mol Med. 2003; 9: 223-228
- Immunology of endometriosis.Best Pract Res Clin Obstet Gynaecol. 2004; 18: 245-263
- Endometriosis and systemic lupus erythematosus: a comparative evaluation of clinical manifestations and serological autoimmune phenomena.Am J Reprod Immunol. 2005; 53: 85-93
- Functional association of interleukin-18 gene–607 C/A promoter polymorphisms with endometriosis.Fertil Steril. 2011; 95: 298-300
- Peritoneal cellular immunity and endometriosis.Am J Reprod Immunol. 1997; 38: 400-412
- STAT4-associated natural killer cell tolerance following liver transplantation.Gut. 2016; (pii:gutjnl-2015-309395)
- Activated STAT4 has an essential role in Th1 differentiation and proliferation that is independent of its role in the maintenance of IL-12R beta 2 chain expression and signaling.J Immunol. 2002; 169: 4388-4398
- A critical regulator of inflammation in vivo.Immunol Res. 2005; 32: 231-241
- Peritoneal fluid concentrations of interleukin-17 correlate with the severity of endometriosis and infertility of this disorder.BJOG. 2005; 112: 1153-1155
Published online: May 13, 2016
Accepted: May 4, 2016
Received in revised form: May 1, 2016
Received: January 12, 2016
© 2016 Elsevier Ireland Ltd. All rights reserved.