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 is associated with nonsyndromic cleft lip and palate, the results do not support the reported association with SNP rs64296. Importantly, the association varies between ethnic groups. This finding underscores the need for evaluating additional variations in IRF6 across multiple populations to better determine its role in nonsyndromic cleft lip and palate.
| Original language | English |
|---|---|
| Pages (from-to) | 574-577 |
| Number of pages | 4 |
| Journal | Cleft Palate-Craniofacial Journal |
| Volume | 47 |
| Issue number | 6 |
| DOIs | |
| State | Published - Nov 1 2010 |
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Keywords
- Association study
- Genetics
- IRF6
- NSCLP
- Orofacial clefting
ASJC Scopus subject areas
- Otorhinolaryngology
- Oral Surgery
Cite this
Ethnic heterogeneity of IRF6 AP-2a binding site promoter SNP association with nonsyndromic cleft lip and palate. / Blanton, Susan H; Burt, Amber; Garcia, Elizabeth; Mulliken, John B.; Stal, Samuel; Hecht, Jacqueline T.
In: Cleft Palate-Craniofacial Journal, Vol. 47, No. 6, 01.11.2010, p. 574-577.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Ethnic heterogeneity of IRF6 AP-2a binding site promoter SNP association with nonsyndromic cleft lip and palate
AU - Blanton, Susan H
AU - Burt, Amber
AU - Garcia, Elizabeth
AU - Mulliken, John B.
AU - Stal, Samuel
AU - Hecht, Jacqueline T.
PY - 2010/11/1
Y1 - 2010/11/1
N2 - 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 is associated with nonsyndromic cleft lip and palate, the results do not support the reported association with SNP rs64296. Importantly, the association varies between ethnic groups. This finding underscores the need for evaluating additional variations in IRF6 across multiple populations to better determine its role in nonsyndromic cleft lip and palate.
AB - 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 is associated with nonsyndromic cleft lip and palate, the results do not support the reported association with SNP rs64296. Importantly, the association varies between ethnic groups. This finding underscores the need for evaluating additional variations in IRF6 across multiple populations to better determine its role in nonsyndromic cleft lip and palate.
KW - Association study
KW - Genetics
KW - IRF6
KW - NSCLP
KW - Orofacial clefting
UR - http://www.scopus.com/inward/record.url?scp=78549251785&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=78549251785&partnerID=8YFLogxK
U2 - 10.1597/09-153
DO - 10.1597/09-153
M3 - Article
C2 - 21039277
AN - SCOPUS:78549251785
VL - 47
SP - 574
EP - 577
JO - Cleft Palate-Craniofacial Journal
JF - Cleft Palate-Craniofacial Journal
SN - 1055-6656
IS - 6
ER -