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Genetic variants in these regulatory molecules may contribute to disease. We aim to identify allelic variants in microRNAs as susceptibility factors to gastric cancer using association studies and functional approaches.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Twenty\u2010one single nucleotide variants potentially functional, because of their location in either the seed, mature or precursor region of 22 microRNAs, were selected for association studies. Genetic association with gastric cancer in 365 cases and 1,284 matched controls (European Prospective Investigation into Cancer and Nutrition Cohort) was analysed using logistic regression. MicroRNA overexpression, transcriptome analysis, and target gene validation experiments were performed for functional studies.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>rs3746444:T&gt;C, in the seed of <jats:italic>MIR499A<\/jats:italic> and mature <jats:italic>MIR499B<\/jats:italic>, associated with the cardia adenocarcinoma location; rs12416605:C&gt;T, in the seed of <jats:italic>MIR938<\/jats:italic>, associated with the diffuse subtype; and rs2114358:T&gt;C, in the precursor <jats:italic>MIR1206<\/jats:italic>, associated with the noncardia phenotype. In all cases, the association was inverse, indicating a protective affect against gastric cancer of the three minor allelic variants. <jats:italic>MIR499<\/jats:italic> rs3746444:T&gt;C and <jats:italic>MIR1206<\/jats:italic> rs2114358:T&gt;C are reported to affect the expression of these miRNAs, but the effect of <jats:italic>MIR938<\/jats:italic> rs12416605:C&gt;T is unknown yet. Functional approaches showed that the expression of <jats:italic>MIR938<\/jats:italic> is affected by rs12416605:C&gt;T and revealed that <jats:italic>MIR938<\/jats:italic> could regulate a subset of cancer\u2010related genes in an allele\u2010specific fashion. Furthermore, we demonstrated that <jats:italic>CXCL12<\/jats:italic>, a chemokine participating in gastric cancer metastasis, is specifically regulated by only one of the rs12416605:C&gt;T alleles.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>rs12416605 appears to be involved in gastric cancer by affecting the regulatory function of <jats:italic>MIR938<\/jats:italic> on genes related to this cancer type, particularly on <jats:italic>CXCL12<\/jats:italic> posttranscriptional regulation.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.832","type":"journal-article","created":{"date-parts":[[2019,7,5]],"date-time":"2019-07-05T04:48:30Z","timestamp":1562302110000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["rs12416605:C&gt;T in <i>MIR938<\/i> associates with gastric cancer through affecting the regulation of the <i>CXCL12<\/i> chemokine gene"],"prefix":"10.1002","volume":"7","author":[{"given":"Ignasi","family":"Torruella\u2010Loran","sequence":"first","affiliation":[{"name":"Department of Experimental and Health Sciences IBE, Institute of Evolutionary Biology (Universitat Pompeu Fabra\u2010CSIC) Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar\u00eda Karla","family":"Ramirez Vi\u00f1a","sequence":"additional","affiliation":[{"name":"School of Medicine Universidad de Magallanes Punta Arenas Chile"},{"name":"Laboratory of Molecular Medicine LMM, Center for Education, Healthcare and Investigation CADI Universidad de Magallanes Punta Arenas Chile"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniela","family":"Zapata\u2010Contreras","sequence":"additional","affiliation":[{"name":"School of Medicine Universidad de Magallanes Punta Arenas Chile"},{"name":"Laboratory of Molecular Medicine LMM, Center for Education, Healthcare and Investigation CADI Universidad de Magallanes Punta Arenas Chile"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xavier","family":"Mu\u00f1oz","sequence":"additional","affiliation":[{"name":"Molecular Epidemiology Group, Translational Research Laboratory Catalan Institute of Oncology\u2010IDIBELL Barcelona Spain"},{"name":"Hereditary Cancer Program Catalan Institute of Oncology, IDIBELL, Hospitalet de Llobregat Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eva","family":"Garcia\u2010Ramallo","sequence":"additional","affiliation":[{"name":"Department of Experimental and Health Sciences IBE, Institute of Evolutionary Biology (Universitat Pompeu Fabra\u2010CSIC) Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catalina","family":"Bonet","sequence":"additional","affiliation":[{"name":"Unit of Nutrition, Environment and Cancer, Cancer Epidemiology Research Program Catalan Institute of Oncology\u2010Bellvitge Biomedical Research Institute 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