Ethnic heterogeneity of IRF6 AP-2a binding site promoter SNP association with nonsyndromic cleft lip and palate.

ABSTRACT:

Objective

The goal of this study was to confirm the reported association between a noncoding SNP (rs642961) in IRF6 and nonsyndromic cleft lip and palate.

Design, setting, and participants

Two SNPs in IRF6 (rs2235371 and rs64296) were genotyped in Hispanic and non-Hispanic white multiplex (122) and simplex (308) nonsyndromic cleft lip and palate families. Linkage and family-based association analyses were performed on the individual SNPs as well as the 2-SNP haplotype.

Results

Only modest evidence was found for an association with rs642961 and the 2-SNP haplotype. In contrast, strong evidence was found for the association with rs2235371; this was most evident in the non-Hispanic white simplex families.

Conclusions

Although it is confirmed that variation in IRF6

SUBMITTER: Blanton SH 

PROVIDER: S-EPMC3039881 | biostudies-literature | 2010 Nov

REPOSITORIES: biostudies-literature