title: Association of WNT4 polymorphisms with endometriosis in infertile patients.
abstract: OBJECTIVE
  Recently, several genome-wide association studies have demonstrated an association between endometriosis and markers located in or near to WNT4 gene. In order to assess the validity of the findings, we conducted a replication case-control study in a Brazilian population.
  
  
  METHODS
  Genetic association study comprising 400 infertile women with endometriosis and 400 fertile women as controls. TaqMan allelic discrimination technique was used to investigate the relationship between endometriosis and four single-nucleotide polymorphisms (rs16826658, rs3820282, rs2235529, and rs7521902) in WNT4 gene. Genotype distribution, allele frequency, and haplotype analysis of the WNT4 polymorphisms were performed. A p value <0.05 was considered significant.
  
  
  RESULTS
  The results revealed a significant association of rs16826658 (p = 7e-04) and rs3820282 (p = 0.048) single-nucleotide polymorphisms (SNPs) on WNT4 gene with endometriosis-related infertility, while rs2235529 and rs7521902 SNPs showed no difference between cases and controls.
  
  
  CONCLUSIONS
  Our results suggested that rs16826658 and rs3820282 polymorphisms on WNT4 gene might be involved in the pathogenesis of endometriosis in the infertile women studied. Analysis of WNT4 genetic variants might help to identify patients at high risk for disease development.
authors.affiliation: Collective Health Department, Division of Reproductive Health and Population Genetics, Faculdade de Medicina do ABC, Santo André, Brazil. mafra.fe@gmail.com.
authors.forename: Fernanda
authors.initials: F
authors.lastname: Mafra
authors.affiliation: Collective Health Department, Division of Reproductive Health and Population Genetics, Faculdade de Medicina do ABC, Santo André, Brazil. mimi_cattosz@hotmail.com.
authors.forename: Michele
authors.initials: M
authors.lastname: Catto
authors.affiliation: Collective Health Department, Division of Reproductive Health and Population Genetics, Faculdade de Medicina do ABC, Santo André, Brazil. bianca.bianco@hotmail.com.
authors.forename: Bianca
authors.initials: B
authors.lastname: Bianco
authors.affiliation: Collective Health Department, Division of Reproductive Health and Population Genetics, Faculdade de Medicina do ABC, Santo André, Brazil. caiopb@uol.com.br.
authors.forename: Caio Parente
authors.initials: CP
authors.lastname: Barbosa
authors.affiliation: Collective Health Department, Division of Reproductive Health and Population Genetics, Faculdade de Medicina do ABC, Santo André, Brazil. denise.morf@gmail.com.|Av. Príncipe de Gales, 821, CEPES, 2° Floor, Lab 101, Santo André, São Paulo, Brazil, 09060-650. denise.morf@gmail.com.
authors.forename: Denise
authors.initials: D
authors.lastname: Christofolini
mesh_terms: D000328:Adult; D015415:Biomarkers / Q000378:metabolism*; D001938:Brazil / Q000453:epidemiology; D016022:Case-Control Studies; D004715:Endometriosis / Q000453:epidemiology* / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D007247:Infertility, Female / Q000503:physiopathology*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011247:Pregnancy; D015995:Prevalence; D011379:Prognosis; D060528:Wnt4 Protein / Q000235:genetics*
chemical_list: D015415:Biomarkers; C555581:WNT4 protein, human; D060528:Wnt4 Protein
keywords: Endometriosis; Infertility; Polymorphism; WNT4 gene