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.
Original language | English (US) |
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Pages (from-to) | 256-259 |
Number of pages | 4 |
Journal | Birth Defects Research Part A - Clinical and Molecular Teratology |
Volume | 88 |
Issue number | 4 |
DOIs | |
State | Published - Apr 2010 |
Keywords
- 8q24
- Association
- Linkage
- Nonsyndromic cleft lip and palate
- NSCLP
ASJC Scopus subject areas
- Developmental Biology
- Pediatrics, Perinatology, and Child Health
- Embryology