Disruption of an AP-2alpha binding site in an IRF6 enhancer is associated with cleft lip.

doi:10.1038/ng.242

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Article

Disruption of an AP-2alpha binding site in an IRF6 enhancer is associated with cleft lip.

Nature genetics - 1 Nov 2008

Rahimov Fedik, Marazita Mary L, Visel Axel, Cooper Margaret E, Hitchler Michael J, Rubini Michele, Domann Frederick E, Govil Manika, Christensen Kaare, Bille Camille, Melbye Mads, Jugessur Astanand, Lie Rolv T, Wilcox Allen J, Fitzpatrick David R, Green Eric D, Mossey Peter A, Little Julian, Steegers-Theunissen Regine P, Pennacchio Len A, Schutte Brian C, Murray Jeffrey C

Abstract excerpt

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...

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PMID: 18836445
DOI: 10.1038/ng.242
PMCID: PMC2691688

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

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