{"paper_id":"1c528676-90d8-4f55-a126-8df05b35543d","body_text":"Abstract\nPurpose\nRecently, 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.\nMethods\nGenetic 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.\nResults\nThe 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.\nConclusions\nOur 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.\nSimilar content being viewed by others\nReferences\nLogan CY, Nusse R. The Wnt signaling pathway in development and disease. Annu Rev Cell Dev Biol. 2004;20:781–810.\nChien AJ, Moon RT. WNTs and WNT receptors as therapeutic tools and targets in human disease processes. Front Biosci. 2007;12:448–57.\nLi Q, Kannan A, Das A, Demayo FJ, Hornsby PJ, Young SL, et al. 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F.M. was supported by a PhD scholarship from FAPESP No. 2012/22394-8.\nConflict of interest\nThe authors declare that they have no competing interests.\nAuthor information\nAuthors and Affiliations\nCorresponding author\nAdditional information\nCapsule\nAnalysis of WNT4 gene identified rs16826658 and rs3820282 polymorphisms involved in the pathogenesis of endometriosis in Brazilian infertile women.\nRights and permissions\nAbout this article\nCite this article\nMafra, F., Catto, M., Bianco, B. et al. Association of WNT4 polymorphisms with endometriosis in infertile patients. J Assist Reprod Genet 32, 1359–1364 (2015). https://doi.org/10.1007/s10815-015-0523-1\nReceived:\nAccepted:\nPublished:\nIssue date:\nDOI: https://doi.org/10.1007/s10815-015-0523-1","source_license":"public-domain-us","license_restricted":false}