Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate

Nat Genet. 2010 Jan;42(1):24-6. doi: 10.1038/ng.506. Epub 2009 Dec 20.

Abstract

We conducted a genome-wide association study for nonsyndromic cleft lip with or without cleft palate (NSCL/P) in 401 affected individuals and 1,323 controls, with replication in an independent sample of 793 NSCL/P triads. We report two new loci associated with NSCL/P at 17q22 (rs227731, combined P = 1.07 x 10(-8), relative risk in homozygotes = 1.84, 95% CI 1.34-2.53) and 10q25.3 (rs7078160, combined P = 1.92 x 10(-8), relative risk in homozygotes = 2.17, 95% CI 1.32-3.56).

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosome Mapping
  • Cleft Lip / complications
  • Cleft Lip / genetics*
  • Cleft Palate / complications
  • Cleft Palate / genetics*
  • Genetic Predisposition to Disease / genetics*
  • Genome-Wide Association Study / methods*
  • Humans
  • Polymorphism, Single Nucleotide

Associated data

  • RefSeq/NM_001103184
  • RefSeq/NM_001112704
  • RefSeq/NM_001127211
  • RefSeq/NM_001202
  • RefSeq/NM_005450
  • RefSeq/NM_005842
  • RefSeq/NM_006147
  • RefSeq/NM_013372
  • RefSeq/NM_018330
  • RefSeq/NM_022065
  • RefSeq/NM_130850
  • RefSeq/NM_130851
  • RefSeq/NM_199131