{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,1]],"date-time":"2026-04-01T18:01:58Z","timestamp":1775066518581,"version":"3.50.1"},"reference-count":56,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2014,7,21]],"date-time":"2014-07-21T00:00:00Z","timestamp":1405900800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Polish Ministry of Science and Higher Education","award":["2012\/07\/B\/NZ2\/00115"],"award-info":[{"award-number":["2012\/07\/B\/NZ2\/00115"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Birth Defects Research"],"published-print":{"date-parts":[[2014,9]]},"abstract":"<jats:p>BACKGROUND: The etiology of nonsyndromic cleft lip with or without cleft palate (NSCL\/P) is very complex and still not well elucidated. Given the critical role of DNA damage repair in the embryonic development, we decided to test the hypothesis that polymorphisms of selected DNA repair genes might contribute to the risk of NSCL\/P in the Polish population. <jats:bold>METHODS:<\/jats:bold> Analysis of 36 polymorphisms in 12 DNA damage repair genes (<jats:italic>ATM<\/jats:italic>, <jats:italic>BLM<\/jats:italic>, <jats:italic>BRCA1<\/jats:italic>, <jats:italic>BRIP1<\/jats:italic>, <jats:italic>E2F1<\/jats:italic>, <jats:italic>MLH1<\/jats:italic>, <jats:italic>MRE11A<\/jats:italic>, <jats:italic>MSH2<\/jats:italic>, <jats:italic>MSH6<\/jats:italic>, <jats:italic>NBN<\/jats:italic>, <jats:italic>RAD50<\/jats:italic>, and <jats:italic>RAD51<\/jats:italic>) was conducted using TaqMan assays in a group of 263 NSCL\/P patients and matched control group (<jats:italic>n<\/jats:italic>\u2009=\u2009526). <jats:bold>RESULTS:<\/jats:bold> Statistical analysis of genotyping results revealed that nucleotide variants in the <jats:italic>BRIP1<\/jats:italic> (<jats:italic>BACH1<\/jats:italic>) gene were associated with the risk of NSCL\/P. Under assumption of a dominant model, the calculated odds ratios (ORs) for <jats:italic>BRIP1<\/jats:italic> rs8075370 and rs9897121 were 1.689 (95% confidence interval [CI], 1.249\u20132.282; <jats:italic>p<\/jats:italic>\u2009=\u20090.0006) and 1.621 (95% CI, 1.200\u20132.191; <jats:italic>p<\/jats:italic>\u2009=\u20090.0016), respectively. These results were statistically significant even after applying multiple testing correction. Additional evidence for a causative role of <jats:italic>BRIP1<\/jats:italic> in NSCL\/P etiology was provided by haplotype analysis. Borderline association with a decreased risk of this anomaly was also observed for <jats:italic>BLM<\/jats:italic> rs401549 (OR<jats:sub>recessive<\/jats:sub>\u2009=\u20090.406; 95% CI, 0.223\u20131.739; <jats:italic>p<\/jats:italic>\u2009=\u20090.002) and <jats:italic>E2F1<\/jats:italic> rs2071054 (OR<jats:sub>dominant<\/jats:sub>\u2009=\u20090.632; 95% CI, 0.469\u20130.852; <jats:italic>p<\/jats:italic>\u2009=\u20090.003). <jats:bold>CONCLUSION:<\/jats:bold> Our study suggests that polymorphic variants of DNA damage repair genes play a role in the susceptibility to NSCL\/P. <jats:italic>BRIP1<\/jats:italic> might be novel candidate gene for this common developmental anomaly. Birth Defects Research (Part A), 100:670\u2013678, 2014. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/bdra.23275","type":"journal-article","created":{"date-parts":[[2014,7,21]],"date-time":"2014-07-21T07:16:38Z","timestamp":1405926998000},"page":"670-678","source":"Crossref","is-referenced-by-count":10,"title":["Genetic variants in BRIP1 (BACH1) contribute to risk of nonsyndromic cleft lip with or without cleft palate"],"prefix":"10.1002","volume":"100","author":[{"given":"Adrianna","family":"Mostowska","sequence":"first","affiliation":[{"name":"Department of Biochemistry and Molecular Biology Poznan University of Medical Sciences Poznan Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kamil K.","family":"Hozyasz","sequence":"additional","affiliation":[{"name":"Department of Paediatrics Institute of Mother and Child Warsaw 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