{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,19]],"date-time":"2025-12-19T15:51:38Z","timestamp":1766159498841,"version":"build-2065373602"},"reference-count":37,"publisher":"MDPI AG","issue":"17","license":[{"start":{"date-parts":[[2024,8,28]],"date-time":"2024-08-28T00:00:00Z","timestamp":1724803200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004281","name":"National Science Centre","doi-asserted-by":"publisher","award":["2169\/B\/P01\/2011\/40"],"award-info":[{"award-number":["2169\/B\/P01\/2011\/40"]}],"id":[{"id":"10.13039\/501100004281","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Cleft lip and\/or palate (CL\/P) are the most common congenital anomalies in the craniofacial region, leading to morphological and functional disruptions in the facial region. Their etiology involves genetic and environmental factors, with genetics playing a crucial role. This study aimed to investigate the association of four single nucleotide polymorphisms (SNPs)\u2014rs987525, rs590223, rs522616, and rs4714384\u2014with CL\/P in the Polish population. We analyzed DNA samples from 209 individuals with CL\/P and 418 healthy controls. The impact of SNPs on the presence of CL\/P was assessed using multivariate logistic regression. Significant associations were found with rs987525. Specifically, the AC genotype was linked to an increased CL\/P risk (odds ratio [OR] = 1.95, 95% confidence interval [CI]: 1.34\u20132.83, p &lt; 0.001), while the CC genotype was associated with a decreased risk (OR = 0.46, 95% CI: 0.32\u20130.67, p &lt; 0.001). Rs4714384 was also significant, with the CT genotype correlated with a reduced risk of CL\/P (OR = 0.66, 95% CI: 0.46\u20130.94, p = 0.011). SNPs rs590223 and rs522616 did not show statistically significant associations. These results underscore the role of rs987525 and rs4714384 in influencing CL\/P risk and suggest the utility of genetic screening in understanding CL\/P etiology.<\/jats:p>","DOI":"10.3390\/ijms25179310","type":"journal-article","created":{"date-parts":[[2024,8,28]],"date-time":"2024-08-28T03:57:06Z","timestamp":1724817426000},"page":"9310","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Investigating Single Nucleotide Polymorphisms in the Etiology of Cleft Lip and Cleft Palate in the Polish Population"],"prefix":"10.3390","volume":"25","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2036-2853","authenticated-orcid":false,"given":"Alicja","family":"Zawi\u015blak","sequence":"first","affiliation":[{"name":"Department of Maxillofacial Orthopaedics and Orthodontics, Institute of Mother and Child, 01\u2013211 Warsaw, Poland"},{"name":"Department of Interdisciplinary Dentistry, Pomeranian Medical University, 70\u2013111 Szczecin, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Krzysztof","family":"Wo\u017aniak","sequence":"additional","affiliation":[{"name":"Department of Orthodontics, Pomeranian Medical University, 70\u2013111 Szczecin, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Beata","family":"Kawala","sequence":"additional","affiliation":[{"name":"Department of Dentofacial Orthopaedics and Orthodontics, Wroc\u0142aw Medical University, 50\u2013425 Wroc\u0142aw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0001-3466-5137","authenticated-orcid":false,"given":"Satish","family":"Gupta","sequence":"additional","affiliation":[{"name":"Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University, 70\u2013111 Szczecin, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Znamirowska-Bajowska","sequence":"additional","affiliation":[{"name":"Department of Dentofacial Orthopaedics and Orthodontics, Wroc\u0142aw Medical University, 50\u2013425 Wroc\u0142aw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1468-4664","authenticated-orcid":false,"given":"Katarzyna","family":"Grocholewicz","sequence":"additional","affiliation":[{"name":"Department of Interdisciplinary Dentistry, Pomeranian Medical University, 70\u2013111 Szczecin, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2931-3003","authenticated-orcid":false,"given":"Jan","family":"Lubi\u0144ski","sequence":"additional","affiliation":[{"name":"Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University, 70\u2013111 Szczecin, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Jakubowska","sequence":"additional","affiliation":[{"name":"Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University, 70\u2013111 Szczecin, Poland"},{"name":"Independent Laboratory of Molecular Biology and Genetic Diagnostics, Pomeranian Medical University, 70\u2013111 Szczecin, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2024,8,28]]},"reference":[{"doi-asserted-by":"crossref","unstructured":"Babai, A., and Irving, M. 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