title: Contribution of 6p24 to non-syndromic cleft lip and palate in a Malay population: association of variants in OFC1.
abstract: 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.
authors.affiliation: Human Genome Center, Universiti Sains Malaysia, Kubang Kerian, 16150, Kelantan, Malaysia.
authors.forename: I
authors.initials: I
authors.lastname: Salahshourifar
authors.forename: A S
authors.initials: AS
authors.lastname: Halim
authors.forename: W A W
authors.initials: WA
authors.lastname: Sulaiman
authors.forename: B A
authors.initials: BA
authors.lastname: Zilfalil
mesh_terms: D044466:Asian People / Q000235:genetics*; D002648:Child; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics; D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D005816:Genetic Complementation Test; D018392:Genomic Imprinting; D006239:Haplotypes; D006801:Humans; D015810:Linkage Disequilibrium; D016015:Logistic Models; D008296:Malaysia; D008297:Male; D018895:Microsatellite Repeats; D016016:Proportional Hazards Models; D011506:Proteins / Q000235:genetics*
chemical_list: C491851:OFCC1 protein, human; D011506:Proteins