Ontology highlight
ABSTRACT:
SUBMITTER: Rahimov F
PROVIDER: S-EPMC2691688 | biostudies-literature | 2008 Nov
REPOSITORIES: biostudies-literature
Rahimov Fedik F Marazita Mary L ML Visel Axel A Cooper Margaret E ME Hitchler Michael J MJ Rubini Michele M Domann Frederick E FE Govil Manika M Christensen Kaare K Bille Camille C Melbye Mads M Jugessur Astanand A Lie Rolv T RT Wilcox Allen J AJ Fitzpatrick David R DR Green Eric D ED Mossey Peter A PA Little Julian J Steegers-Theunissen Regine P RP Pennacchio Len A LA Schutte Brian C BC Murray Jeffrey C JC
Nature genetics 20081005 11
Previously we have shown that nonsyndromic cleft lip with or without cleft palate (NSCL/P) is strongly associated with SNPs in IRF6 (interferon regulatory factor 6). Here, we use multispecies sequence comparisons to identify a common SNP (rs642961, G>A) in a newly identified IRF6 enhancer. The A allele is significantly overtransmitted (P = 1 x 10(-11)) in families with NSCL/P, in particular those with cleft lip but not cleft palate. Further, there is a dosage effect of the A allele, with a relat ...[more]