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 |
|---|---|
| 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 1 2010 |
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Keywords
- 8q24
- Association
- Linkage
- Nonsyndromic cleft lip and palate
- NSCLP
ASJC Scopus subject areas
- Developmental Biology
- Pediatrics, Perinatology, and Child Health
- Embryology
Cite this
Family-based study shows heterogeneity of a susceptibility locus on chromosome 8q24 for nonsyndromic cleft lip and palate. / Blanton, Susan H; Burt, Amber; Stal, Samuel; Mulliken, John B.; Garcia, Elizabeth; Hecht, Jacqueline T.
In: Birth Defects Research Part A - Clinical and Molecular Teratology, Vol. 88, No. 4, 01.04.2010, p. 256-259.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Family-based study shows heterogeneity of a susceptibility locus on chromosome 8q24 for nonsyndromic cleft lip and palate
AU - Blanton, Susan H
AU - Burt, Amber
AU - Stal, Samuel
AU - Mulliken, John B.
AU - Garcia, Elizabeth
AU - Hecht, Jacqueline T.
PY - 2010/4/1
Y1 - 2010/4/1
N2 - 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.
AB - 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.
KW - 8q24
KW - Association
KW - Linkage
KW - Nonsyndromic cleft lip and palate
KW - NSCLP
UR - http://www.scopus.com/inward/record.url?scp=77950832247&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=77950832247&partnerID=8YFLogxK
U2 - 10.1002/bdra.20659
DO - 10.1002/bdra.20659
M3 - Article
C2 - 20196142
AN - SCOPUS:77950832247
VL - 88
SP - 256
EP - 259
JO - Teratology
JF - Teratology
SN - 1542-0752
IS - 4
ER -