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Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci

Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci

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Authors

  • Kerstin U. Ludwig
  • Elisabeth Mangold (Lead / Corresponding author)
  • Stefan Herms
  • Stefanie Nowak
  • Heiko Reutter
  • Anna Paul
  • Jessica Becker
  • Ruth Herberz
  • Taofik AlChawa
  • Entessar Nasser
  • Anne C. Boehmer
  • Manuel Mattheisen
  • Margrieta A. Alblas
  • Sandra Barth
  • Nadine Kluck
  • Carola Lauster
  • Bert Braumann
  • Rudolf H. Reich
  • Alexander Hemprich
  • Simone Poetzsch
  • Bettina Blaumeiser
  • Nikolaos Daratsianos
  • Thomas Kreusch
  • Jeffrey C. Murray
  • Mary L. Marazita
  • Ingo Ruczinski
  • Alan F. Scott
  • Terri H. Beaty
  • Franz-Josef Kramer
  • Thomas F. Wienker
  • Regine P. Steegers-Theunissen
  • Michele Rubini
  • Per Hoffmann
  • Christoph Lange
  • Sven Cichon
  • Peter Propping
  • Michael Knapp
  • Markus M. Noethen

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Info

Original languageEnglish
Pages968-971
Number of pages4
JournalNature Genetics
Journal publication dateSep 2012
Journal number9
Volume44
DOIs
StatePublished

Abstract

We have conducted the first meta-analyses for nonsyndromic cleft lip with or without cleft palate (NSCL/P) using data from the two largest genome-wide association studies published to date. We confirmed associations with all previously identified loci and identified six additional susceptibility regions (1p36, 2p21, 3p11.1, 8q21.3, 13q31.1 and 15q22). Analysis of phenotypic variability identified the first specific genetic risk factor for NSCLP (nonsyndromic cleft lip plus palate) (rs8001641; P-NSCLP = 6.51 x 10(-11); homozygote relative risk = 2.41, 95% confidence interval (CI) 1.84-3.16).

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