title: STAT4 single nucleotide gene polymorphisms and susceptibility to endometriosis-related infertility.
abstract: BACKGROUND
  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.
  
  
  METHODS
  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.
  
  
  RESULTS
  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).
  
  
  CONCLUSIONS
  Our results for the first time showed a significant association between rs7582694 alleles and genotypes and susceptibility to endometriosis in a population.
authors.affiliation: Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran; Network of Immunity in Infection, Autoimmunity and Malignancy (NIIMA), Universal Scientific Education and Research Network (USERN), Tehran, Iran.
authors.forename: Mohammad Reza
authors.initials: MR
authors.lastname: Zamani
authors.affiliation: Network of Immunity in Infection, Autoimmunity and Malignancy (NIIMA), Universal Scientific Education and Research Network (USERN), Tehran, Iran; Medical Genetics Research Center, Mashhad University of Medical Science, Mashhad, Iran.
authors.forename: Arash
authors.initials: A
authors.lastname: Salmaninejad
authors.affiliation: Department of Obstetrics and Gynecology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Firouzeh
authors.initials: F
authors.lastname: Akbari Asbagh
authors.affiliation: Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Ahmad
authors.initials: A
authors.lastname: Masoud
authors.affiliation: Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran; Network of Immunity in Infection, Autoimmunity and Malignancy (NIIMA), Universal Scientific Education and Research Network (USERN), Tehran, Iran; Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran. Electronic address: rezaei_nima@tums.ac.ir.
authors.forename: Nima
authors.initials: N
authors.lastname: Rezaei
mesh_terms: D000328:Adult; D000483:Alleles; D004715:Endometriosis / Q000150:complications / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007247:Infertility, Female / Q000209:etiology / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D050797:STAT4 Transcription Factor / Q000235:genetics*
chemical_list: D050797:STAT4 Transcription Factor
keywords: Autoimmunity; Endometriosis; Infertility; Polymorphism; STAT4