Manuel Mattheisen

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

Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  • Kerstin U Ludwig
  • ,
  • Elisabeth Mangold
  • ,
  • Stefan Herms
  • ,
  • Stefanie Nowak
  • ,
  • Heiko Reutter
  • ,
  • Anna Paul
  • ,
  • Jessica Becker
  • ,
  • Ruth Herberz
  • ,
  • Taofik AlChawa
  • ,
  • Entessar Nasser
  • ,
  • Anne C Böhmer
  • ,
  • Manuel Mattheisen
  • Margrieta A Alblas
  • ,
  • Sandra Barth
  • ,
  • Nadine Kluck
  • ,
  • Carola Lauster
  • ,
  • Bert Braumann
  • ,
  • Rudolf H Reich
  • ,
  • Alexander Hemprich
  • ,
  • Simone Pötzsch
  • ,
  • 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
  • ,
  • Peter A Mossey
  • ,
  • Per Hoffmann
  • ,
  • Christoph Lange
  • ,
  • Sven Cichon
  • ,
  • Peter Propping
  • ,
  • Kolja Michael Knapp, 2012 Institut for Lægemiddeldesign og Farmakologi, Denmark
  • Markus M Nöthen
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 × 10(-11); homozygote relative risk = 2.41, 95% confidence interval (CI) 1.84-3.16).
Original languageEnglish
JournalNature Genetics
Volume44
Issue9
Pages (from-to)968-71
Number of pages4
ISSN1061-4036
DOIs
Publication statusPublished - Sep 2012
Externally publishedYes

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