Format

Send to

Choose Destination
See comment in PubMed Commons below
Birth Defects Res A Clin Mol Teratol. 2010 Apr;88(4):256-9. doi: 10.1002/bdra.20659.

Family-based study shows heterogeneity of a susceptibility locus on chromosome 8q24 for nonsyndromic cleft lip and palate.

Author information

  • 1University of Miami, Miller School of Medicine, Miami, FL, USA.

Abstract

BACKGROUND:

Nonsyndromic cleft lip with or without cleft palate is a common birth defect. Although a number of susceptibility loci have been reported, replication has often been lacking. This is likely due, in part, to the heterogeneity of datasets and methodologies. Two independent genome-wide association studies of individuals of largely western European extraction have identified a possible susceptibility locus on 8q24.21.

METHODS:

To determine the overall effect of this locus, we genotyped six of the previously associated single nucleotide polymorphisms in our Hispanic and non-Hispanic white family-based datasets and evaluated them for linkage and association. In addition, we genotyped a large African American family with nonsyndromic cleft lip with or without cleft palate that we had previously mapped to the 8q21.3-24.12 region to test for linkage.

RESULTS:

There was no evidence for linkage to this region in any of the three ethnic groups. Nevertheless, strong evidence for association was noted in the non-Hispanic white group, whereas none was detected in the Hispanic dataset.

CONCLUSION:

These results confirm the previously reported association and provide evidence suggesting that there is ethnically based heterogeneity for this locus.

(c) 2010 Wiley-Liss, Inc.

[PubMed - indexed for MEDLINE]
Free PMC Article
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Wiley Icon for PubMed Central
    Loading ...
    Write to the Help Desk