{"paper_id":"a73cb2cd-8704-4544-a0c7-122a94c906de","body_text":"Abstract\nThe MMP2 gene has been implicated in the pathogenesis of endometriosis. We investigated the role and function of single-nucleotide polymorphisms (SNP) of MMP2 in relation to endometriosis. First a case–control study was conducted and 17 SNPs were examined in 211 patients and 344 controls. Regression analysis was used to evaluate the genetic effect. We used reporter assay to validate the functional consequences of the significant SNP. Two SNPs (rs243832 and rs7201) had P-values <0.05 and they are in strong linkage disequilibrium (D′=0.96 and r2=0.47). Further analysis showed that rs7201 but not rs246832 was an independent risk factor and the risk C allele of rs7201 had an odds ratio (OR) of 1.88 (P=0.004). SNP rs7201 is located at the 3′-untranslated region and is predicted to be within the microRNA-520g binding site. The reporter assay for rs7201 showed that the risk C allele had a higher expression level than the A allele (P=0.027). Using microRNA-520g mimic and inhibitor, the results indicated that the A allele but not the risk C allele can be regulated by microRNA-520g. The C allele of SNP rs7201 increases a risk for endometriosis because of out of regulation by microRNA-520g.\nSimilar content being viewed by others\nLog in or create a free account to read this content\nGain free access to this article, as well as selected content from this journal and more on nature.com\nor\nReferences\nHadfield, R. M., Mardon, H. J., Barlow, D. H. & Kennedy, S. H. Endometriosis in monozygotic twins. Fertil. Steril. 68, 941–942 (1997).\nSimpson, J. L. & Bischoff, F. Z. Heritability and molecular genetic studies of endometriosis. Ann. NY Acad. Sci. 955, 239–251 (2002).\nTempfer, C. B., Simoni, M., Destenaves, B. & Fauser, B. C. 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Cancer Res. 62, 6430–6433 (2002).\nAcknowledgements\nThis work was supported by the National Science Council, Taiwan (Grant numbers NSC 97-2314-B-037-010-MY3, 99-2628-B-037-009-MY3); Kaohsiung Medical University Research Foundation (KMUER-004) and the Kaohsiung Medical University Hospital Research Fund (Grant Numbers KMUH98-8I11, KMUH 99-9I04 and KMUH 99-9R30).\nAuthor information\nAuthors and Affiliations\nCorresponding author\nEthics declarations\nCompeting interests\nThe authors declare no conflict of interest.\nAdditional information\nSupplementary Information accompanies the paper on Journal of Human Genetics website\nSupplementary information\nRights and permissions\nAbout this article\nCite this article\nTsai, EM., Wang, YS., Lin, CS. et al. A microRNA-520 mirSNP at the MMP2 gene influences susceptibility to endometriosis in Chinese women. J Hum Genet 58, 202–209 (2013). https://doi.org/10.1038/jhg.2013.1\nReceived:\nRevised:\nAccepted:\nPublished:\nIssue date:\nDOI: https://doi.org/10.1038/jhg.2013.1\nKeywords\nThis article is cited by\n-\nThe effect of MicroRNAs variants on idiopathic recurrent pregnancy loss\nJournal of Assisted Reproduction and Genetics (2023)\n-\nCirculating non-coding RNAs as non-invasive diagnostic markers of endometriosis: a comprehensive meta-analysis\nArchives of Gynecology and Obstetrics (2019)","source_license":"public-domain-us","license_restricted":false}