A Genome-Wide Association Study Identifies a Locus for Nonsyndromic Cleft Lip with or without Cleft Palate on 8q24 - 07/08/11
, Kai Wang, PhD a, Haitao Zhang, PhD a, Wendy Glaberson, BA a, Kiran Annaiah, MSc a, Cecilia E. Kim, BA a, Jonathan P. Bradfield, BS a, Joseph T. Glessner, MSc a, Kelly A. Thomas, BA a, Maria Garris, BA a, Edward C. Frackelton, BA a, F. George Otieno, MSc a, Rosetta M. Chiavacci, BSN a, Hyun-Duck Nah, PhD d, Richard E. Kirschner, MD d, Hakon Hakonarson, MD, PhD a, b, c
Reprint requests: Struan Grant, PhD, Center for Applied Genomics, 1216 E. Abramson Research Center, 3615 Civic Center Blvd, Philadelphia, PA 19104-4318.Abstract |
Objective |
To identify, in a non-hypothesis manner, novel genetic factors associated with nonsyndromic cleft lip with or without cleft palate (NSCL/P).
Study design |
We performed a genome-wide association study in a pediatric cohort of European decent consisting of 111 NSCL/P cases and 5951 control subjects. All subjects were consecutively recruited from the Greater Philadelphia area from 2006 to 2009. High throughput genome-wide single nucleotide polymorphism genotyping was carried out with the Illumina Infinium II HumanHap550 BeadChip technology.
Results |
We observed association at the genome-wide significance level with SNP rs987525 at a locus on 8q24, which harbors no characterized genes to date (P = 9.18 × 10−8; odds ratio = 2.09, 95% confidence interval = 1.59 to 2.76). While searching for a replication cohort, the same genetic determinant was established through a genome-wide association study of NSCL/P in Germany, so this previous report acts as a de novo replication for our independent observation outlined here.
Conclusions |
These results strongly suggest that a locus on 8q24 is involved in the pathogenesis of NSCL/P.
Le texte complet de cet article est disponible en PDF.Mots-clés : NSCL/P, OR, SNP
Plan
| This research was financially supported by the Children’s Hospital of Philadelphia and in part by a Research Development Award from the Cotswold Foundation (H.H. & S.F.A.G). The authors declare no conflicts of interest. |
Vol 155 - N° 6
P. 909-913 - décembre 2009 Retour au numéro
Article précédent
- A Multivariate Analysis of Youth Violence and Aggression: The Influence of Family, Peers, Depression, and Media Violence
- Christopher J. Ferguson, Claudia San Miguel, Richard D. Hartley
- Associations between Physical Activity, Fitness, and Academic Achievement
- Lydia Kwak, Stef P.J. Kremers, Patrick Bergman, Jonatan R. Ruiz, Nico S. Rizzo, Michael Sjöström
Bienvenue sur EM-consulte, la référence des professionnels de santé.
L’accès au texte intégral de cet article nécessite un abonnement.
Déjà abonné à cette revue ?