A polymorphic marker associated with non-syndromic cleft lip with or without cleft palate in a population in Heilongjiang Province, northern China

•Significant differences in the allele frequencies of rs560426 variant within ABCA4 gene were observed between the NSCL/P group and controls in the examined northern Chinese Han population.•The G/G genotype of the rs560426 SNP in ABCA4 gene had an odd ratios of 2.39 (95%CI: 1.38–4.14, p = 0.0041), G allele of rs560426 may be a risk factor for developing NSCL/P.•There was no association between rs481931 variant within ABCA4 gene and NSCL/P in the examined northern Chinese Han population.

ObjectiveTo further assess the roles of the ABCA4 (ATP-binding cassette, sub-family A, member 4) gene in NSCL/P, we investigated two tag SNPs in ABCA4 (rs481931 and rs560426) in a northern Chinese Han population where the prevalence of NSCL/P is high.Materials and methodsThe two SNPs were examined for association with NSCL/P in 344 patients and 324 healthy controls. Peripheral blood samples were acquired at study enrollment, and DNA samples were extracted. SNPs were genotyped using a mini-sequencing (SNAPSHOT) method.ResultsWe observed a significant correlation between the ABCA4 SNP rs560426 and NSCL/P (p = 0.0041) but no evidence of association between rs481931 and NSCL/P. The G/G genotype at the rs560426 SNP in ABCA4 gene had an odd ratios of 2.39 (95%CI: 1.38–4.14, p = 0.0041) compared with the A/A genotype, and a similar significance was noted in the CL/P subgroup (ORA/G = 1.60, 95%CI: 1.09–2.34, ORG/G = 2.96, 95%CI: 1.63–5.37 and ORG/G+A/G = 1.80, 95%CI: 1.25–2.60, p = 0.0007).ConclusionsOur study provides further evidence regarding the roles of genetic markers in ABCA4 in NSCL/P development in this northern Chinese Han population. G allele of rs560426 may be a risk factor for developing NSCL/P.