{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T18:40:16Z","timestamp":1777660816518,"version":"3.51.4"},"reference-count":40,"publisher":"SAGE Publications","issue":"5","license":[{"start":{"date-parts":[[2023,5,1]],"date-time":"2023-05-01T00:00:00Z","timestamp":1682899200000},"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":["Genetic Testing and Molecular Biomarkers"],"published-print":{"date-parts":[[2023,5]]},"abstract":"<jats:sec>\n                    <jats:title>Background:<\/jats:title>\n                    <jats:p>\n                      Nonsyndromic cleft lip with or without cleft palate (NSCL\/P) is a complex congenital disease affected by genetic and environmental factors however, the specific pathogenic alleles and regulatory mechanisms remain unclear in many cases. Here, we aimed to study the association between eight potentially functional single nucleotide polymorphisms (SNPs) of the\n                      <jats:italic toggle=\"yes\">BRCA2<\/jats:italic>\n                      and\n                      <jats:italic toggle=\"yes\">MGMT<\/jats:italic>\n                      genes and NSCL\/P in a Chinese population through a case-control study.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Materials and Methods:<\/jats:title>\n                    <jats:p>\n                      To investigate the relationship between potentially functional SNPs of the\n                      <jats:italic toggle=\"yes\">BRCA2<\/jats:italic>\n                      and\n                      <jats:italic toggle=\"yes\">MGMT<\/jats:italic>\n                      genes and NSCL\/P, we selected 200 affected patients and 200 unrelated normal controls in a Chinese population. The\n                      <jats:italic toggle=\"yes\">BRCA2<\/jats:italic>\n                      gene SNPs (rs11571836, rs144848, rs7334543, rs15869, rs766173 and rs206118) and\n                      <jats:italic toggle=\"yes\">MGMT<\/jats:italic>\n                      gene SNPs (rs12917 and rs7896488) were genotyped using the SNaPshot technique and the resulting data were subjected to statistical and bioinformatic analyses.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>\n                      Our study identified for the first time that alleles of the\n                      <jats:italic toggle=\"yes\">BRCA2<\/jats:italic>\n                      are associated with NSCL\/P in a Chinese population and that the s11571836 G allele was protective against NSCL\/P. Under four genetic models, rs11571836 had a significant correlation with NSCL\/P. Preliminary bioinformatic analyses revealed four potential miRNA matching sites (miR-1244, miR-1323, miR-562, and miR-633) associated with the rs11571836 which is located in the 3\u2032 untranslated region of\n                      <jats:italic toggle=\"yes\">BRCA2<\/jats:italic>\n                      .\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions:<\/jats:title>\n                    <jats:p>\n                      These results support the role of polymorphisms of\n                      <jats:italic toggle=\"yes\">BRCA2<\/jats:italic>\n                      gene in affecting susceptibility to NSCL\/P and its progression, but further research is necessary to elucidate the mechanism by which the\n                      <jats:italic toggle=\"yes\">BRCA2<\/jats:italic>\n                      gene polymorphisms affect the penetrance of NSCL\/P.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1089\/gtmb.2022.0223","type":"journal-article","created":{"date-parts":[[2023,5,19]],"date-time":"2023-05-19T09:54:16Z","timestamp":1684490056000},"page":"157-164","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["Association of\n                    <i>BRCA2<\/i>\n                    Gene Functional Polymorphisms with Nonsyndromic Cleft Lip With or Without Cleft Palate in a Chinese Population"],"prefix":"10.1177","volume":"27","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4362-5038","authenticated-orcid":false,"given":"Siyuan","family":"Guo","sequence":"first","affiliation":[{"name":"Department of Oral and Maxillofacial Plastic and Traumatic Surgery, Beijing Stomatological Hospital, Capital Medical University, Beijing, China."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zuo","family":"Zhou","sequence":"additional","affiliation":[{"name":"Department of Oral 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China."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yupei","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Oral and Maxillofacial Plastic and Traumatic Surgery, Beijing Stomatological Hospital, Capital Medical University, Beijing, China."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Renji","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Oral and Maxillofacial Plastic and Traumatic Surgery, Beijing Stomatological Hospital, Capital Medical University, Beijing, 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