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Further evidence of association of the ABCA 4 gene with cleft lip/palate
Author(s) -
Fontoura Clarissa,
Silva Renato M.,
Granjeiro Jose M.,
Letra Ariadne
Publication year - 2012
Publication title -
european journal of oral sciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.802
H-Index - 93
eISSN - 1600-0722
pISSN - 0909-8836
DOI - 10.1111/eos.12001
Subject(s) - abca4 , single nucleotide polymorphism , genetics , etiology , allele , snp , gene , case control study , biology , polymorphism (computer science) , population , genotype , medicine , environmental health , phenotype
Non‐syndromic cleft lip with or without cleft palate ( CL / P ) is a common birth defect with a complex etiology. Numerous genes and environmental factors, and their interactions, are thought to play a role in the susceptibility to CL / P . A recent genome‐wide association study with several populations revealed markers in/near transcription factor vmaf musculoaponeurtoic fibrosarcoma oncogene homolog B ( MAFB ) and ATP ‐binding cassette sub‐family A member 4 ( ABCA 4 ) genes as new susceptibility loci for CL / P . We hypothesized that these genes could also contribute to CL / P in a B razilian population, and hence we evaluated if the associated single‐nucleotide polymorphisms ( SNP s) in MAFB (rs13041247 and rs11696257) and ABCA 4 (rs560426 and rs481931) were associated with CL / P in our case–control data set. We genotyped 812 Caucasian individuals (400 cases and 412 controls) from Brazil. Allele frequencies were compared for cases and controls as well as for cleft subgroups and controls. ABCA 4 rs540426 showed strong associations with CL / P , unilateral and right CL / P , and bilateral CL / P , whereas the SNP rs481931 showed borderline associations with CL / P and bilateral CL / P . No association was found for MAFB . Our results support a potential role for ABCA 4 in the etiology of CL / P in individuals from Brazil.