Contribution of 6p24 to non-syndromic cleft lip and palate in a Malay population: Association of variants in OFC1

Non-syndromic cleft lip,with or without cleft palate,is a heterogeneous,complex disease with a high incidence in the asian population. several association studies have been done on cleft candidate genes,but no reports have been published thus far on the orofacial cleft 1 (ofc1) genomic region in an asian population. this study investigated the association between the ofc1 genomic region and non-syndromic cleft lip with or without cleft palate in 90 malay father-mother-offspring trios. results showed a preferential over-transmission of a 101-bp allele of marker d6s470 in the allele- and haplotype-based transmission disequilibrium test (tdt),as well as an excess of maternal transmission. however,no significant p-value was found for a maternal genotype effect in a log-linear model,although single and double doses of the 101-bp allele showed a slightly increased cleft risk (rr = 1.37,95% ci,0.527-3.4,p-value = 0.516). carrying two copies of the 101-bp allele was significantly associated with an increased cleft risk (rr = 2.53,95% ci,1.06-6.12,p-value = 0.035). in conclusion,we report evidence of the contribution of the ofc1 genomic region to the etiology of clefts in a malay population. © international & american associations for dental research.