ArticleHua xi kou qiang yi xue za zhi = Huaxi kouqiang yixue zazhi = West China journal of stomatology2026
[Association analysis between dystrophin gene polymorphism and non-syndromic cleft lip with or without cleft palate].
Article in Hua xi kou qiang yi xue za zhi = Huaxi kouqiang yixue zazhi = West China journal of stomatology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
objectivesNon-syndromic cleft lip with or without cleft palate (NSCL/P) is a common birth defect influenced by genetic and environmental factors, with genetic factors playing a major role. This study aims to investigate the association between the dystrophin (DMD) gene and NSCL/P in a Chinese Han population.
methodsFour tag single nucleotide polymorphisms (SNPs) in the DMD gene were selected and allelic and genotype-based association analyses were performed on 1 780 patients with NSCL/P and 1 823 normal controls.
resultsComparison with the controls showed that patients with NSCL/P presented three SNPs (rs5971698, rs5928208, and rs5972815) with significant associations with NSCL/P or its subphenotypes. Allelic association analysis revealed that rs5971698 was associated with NSCL/P, unilateral cleft lip with or without cleft palate (UCL/P), left cleft lip with or without cleft palate (LCL/P), unilateral cleft lip and cleft palate (UCLP), left cleft lip and cleft palate (LCLP), unilateral cleft lip (UCL), and left cleft lip only (LCL) (
conclusionsThis study identified associations between SNPs in the DMD gene and NSCL/P in a Western Chinese Han population, providing new evidence for distinct genetic susceptibility loci among NSCL/P subtypes.
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