{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,28]],"date-time":"2026-08-28T06:18:10Z","timestamp":1787897890522,"version":"build-2784847793"},"reference-count":30,"publisher":"SAGE Publications","issue":"1","license":[{"start":{"date-parts":[[2019,1,1]],"date-time":"2019-01-01T00:00:00Z","timestamp":1546300800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["OMICS: A Journal of Integrative Biology"],"published-print":{"date-parts":[[2019,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Birth defects, the ventricular septal defect (VSD) in particular, have major public health significance. There is evidence that genetic factors play a role in VSD risk. We report here our findings on the relationship between VSD and microRNA (miRNA)-3691-3p target sequence single-nucleotide polymorphisms (SNPs) in the 3\u2032 untranslated region of the\n                    <jats:italic toggle=\"yes\">NOTCH1<\/jats:italic>\n                    gene. Functional SNPs in\n                    <jats:italic toggle=\"yes\">NOTCH1<\/jats:italic>\n                    target sequence were screened from the SNP database. A case\u2013control study in a large Chinese Han population sample of 350 children with VSD and 430 healthy controls examined the association between rs6563 SNPs and VSD.\n                    <jats:italic toggle=\"yes\">NOTCH1<\/jats:italic>\n                    wild and mutant recombinant expression vectors were constructed by the luciferase reporter gene system. The effects of miRNA on gene regulatory effects were also analyzed. The allelic distributions at the locus rs6563 showed statistically significant susceptibility to VSD (odds ratio [OR]\u2009=\u20091.502, 95% confidence interval [CI]\u2009=\u20091.209\u20131.866,\n                    <jats:italic toggle=\"yes\">p<\/jats:italic>\n                    \u2009&lt;\u20090.001). Compared with the subjects with\n                    <jats:italic toggle=\"yes\">G<\/jats:italic>\n                    \/\n                    <jats:italic toggle=\"yes\">G<\/jats:italic>\n                    genotype, individuals with\n                    <jats:italic toggle=\"yes\">G<\/jats:italic>\n                    \/\n                    <jats:italic toggle=\"yes\">A<\/jats:italic>\n                    genotype or\n                    <jats:italic toggle=\"yes\">A<\/jats:italic>\n                    \/\n                    <jats:italic toggle=\"yes\">A<\/jats:italic>\n                    genotype showed ORs 1.414 (95% CI\u2009=\u20091.047\u20131.908,\n                    <jats:italic toggle=\"yes\">p<\/jats:italic>\n                    \u2009=\u20090.020) and 2.366 (95% CI\u2009=\u20091.430\u20133.914,\n                    <jats:italic toggle=\"yes\">p<\/jats:italic>\n                    \u2009&lt;\u20090.001), respectively. The miRNA-3691-3p reduced luciferase activity of the\n                    <jats:italic toggle=\"yes\">A<\/jats:italic>\n                    allele. The rs6563\n                    <jats:italic toggle=\"yes\">G<\/jats:italic>\n                    \u2009&gt;\u2009\n                    <jats:italic toggle=\"yes\">A<\/jats:italic>\n                    genetic variation appears to be associated with congenital VSD through gene regulatory effects of miR-3691-3p on the\n                    <jats:italic toggle=\"yes\">NOTCH1<\/jats:italic>\n                    gene. Further studies in other population samples are called for diagnostics and public health innovation in relation to birth defects.\n                  <\/jats:p>","DOI":"10.1089\/omi.2018.0171","type":"journal-article","created":{"date-parts":[[2019,1,10]],"date-time":"2019-01-10T12:10:18Z","timestamp":1547122218000},"page":"28-35","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":7,"title":["<i>NOTCH1<\/i>\n                    Gene MicroRNA Target Variation and Ventricular Septal Defect Risk"],"prefix":"10.1177","volume":"23","author":[{"given":"Long","family":"Ji","sequence":"first","affiliation":[{"name":"School of Public Health, Taishan Medical University, Tai'an, P.R. China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Haifeng","family":"Hou","sequence":"additional","affiliation":[{"name":"School of Public Health, Taishan Medical University, Tai'an, P.R. China."},{"name":"School of Medical and Health Sciences, Edith Cowan University, Perth, Australia."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kai","family":"Zhu","sequence":"additional","affiliation":[{"name":"School of Public Health, Taishan Medical University, Tai'an, P.R. China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xuezhen","family":"Liu","sequence":"additional","affiliation":[{"name":"School of Public Health, Taishan Medical University, Tai'an, P.R. China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yizhi","family":"Liu","sequence":"additional","affiliation":[{"name":"School of Public Health, Taishan Medical University, Tai'an, P.R. China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qian","family":"Wang","sequence":"additional","affiliation":[{"name":"School of Public Health, Taishan Medical University, Tai'an, P.R. China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jindong","family":"Li","sequence":"additional","affiliation":[{"name":"School of Public Health, Taishan Medical University, Tai'an, P.R. China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huamin","family":"Liu","sequence":"additional","affiliation":[{"name":"School of Public Health, Taishan Medical University, Tai'an, P.R. China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qianqian","family":"Zhang","sequence":"additional","affiliation":[{"name":"School of Public Health, Taishan Medical University, Tai'an, P.R. China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jian","family":"Lv","sequence":"additional","affiliation":[{"name":"School of Public Health, Taishan Medical University, Tai'an, P.R. China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rachel","family":"Alexander","sequence":"additional","affiliation":[{"name":"School of Medical and Health Sciences, Edith Cowan University, Perth, Australia."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wei","family":"Wang","sequence":"additional","affiliation":[{"name":"School of Public Health, Taishan Medical University, Tai'an, P.R. China."},{"name":"School of Medical and Health Sciences, Edith Cowan University, Perth, Australia."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dong","family":"Li","sequence":"additional","affiliation":[{"name":"School of Public Health, Taishan Medical University, Tai'an, P.R. 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