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PMID: 20023658 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

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

Nature genetics ·Vol. 42 ·No. 1 ·2010-01-00 ·Pages 24-6

Mangold E, Ludwig KU, Birnbaum S, Baluardo C, Ferrian M, Herms S, Reutter H, de Assis NA, Chawa TA, Mattheisen M, Steffens M, Barth S, Kluck N, Paul A, Becker J, Lauster C, Schmidt G, Braumann B, Scheer M, Reich RH, Hemprich A, Pötzsch S, Blaumeiser B, Moebus S, Krawczak M, Schreiber S, Meitinger T, Wichmann HE, Steegers-Theunissen RP, Kramer FJ, Cichon S, Propping P, Wienker TF, Knapp M, Rubini M, Mossey PA, Hoffmann P, Nöthen MM

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).

MeSH Terms
Chromosome Mapping Cleft Lip/complications,genetics Cleft Palate/complications,genetics Genetic Predisposition to Disease/genetics Genome-Wide Association Study/methods Humans Polymorphism, Single Nucleotide
Authors & Affiliations
38 authors, click to expand affiliations / ORCID
Mangold Elisabeth
Institute of Human Genetics, Life and Brain Center, University of Bonn, Bonn, Germany. e.mangold@uni-bonn.de
Ludwig Kerstin U
Birnbaum Stefanie
Baluardo Carlotta
Ferrian Melissa
Herms Stefan
Reutter Heiko
de Assis Nilma Almeida
Chawa Taofik Al
Mattheisen Manuel
Steffens Michael
Barth Sandra
Kluck Nadine
Paul Anna
Becker Jessica
Lauster Carola
Schmidt Gül
Braumann Bert
Scheer Martin
Reich Rudolf H
Hemprich Alexander
Pötzsch Simone
Blaumeiser Bettina
Moebus Susanne
Krawczak Michael
Schreiber Stefan
Meitinger Thomas
Wichmann Hans-Erich
Steegers-Theunissen Regine P
Kramer Franz-Josef
Cichon Sven
Propping Peter
Wienker Thomas F
Knapp Michael
Rubini Michele
Mossey Peter A
Hoffmann Per
Nöthen Markus M
References (14)
14 references, click to expand
  1. Stage-dependent craniofacial defects resulting from Sprouty2 overexpression.
    Dev Dyn. 2007 Jul;236(7):1918-28 PMID: 17576140
  2. Direct duplication 2p14 to 2p23.
    Hum Genet. 1979 Apr 27;48(2):241-4 PMID: 457145
  3. A dosage-dependent role for Spry2 in growth and patterning during palate development.
    Mech Dev. 2007 Sep-Oct;124(9-10):746-61 PMID: 17693063
  4. Mutations in BMP4 are associated with subepithelial, microform, and overt cleft lip.
    Am J Hum Genet. 2009 Mar;84(3):406-11 PMID: 19249007
  5. Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24.
    Nat Genet. 2009 Apr;41(4):473-7 PMID: 19270707
  6. Disruption of an AP-2alpha binding site in an IRF6 enhancer is associated with cleft lip.
    Nat Genet. 2008 Nov;40(11):1341-7 PMID: 18836445
  7. Rescue of cleft palate in Msx1-deficient mice by transgenic Bmp4 reveals a network of BMP and Shh signaling in the regulation of mammalian palatogenesis.
    Development. 2002 Sep;129(17):4135-46 PMID: 12163415
  8. Is there a monosomy 10qter syndrome?
    Clin Genet. 1982 Jan;21(1):33-5 PMID: 7067162
  9. Terminal deletion of the long arm of chromosome 10: a new case with breakpoint in q25.3.
    Am J Med Genet. 1998 Apr 28;77(1):60-2 PMID: 9557896
  10. A domain of the thyroid adenoma associated gene (THADA) conserved in vertebrates becomes destroyed by chromosomal rearrangements observed in thyroid adenomas.
    Gene. 2007 Nov 15;403(1-2):110-7 PMID: 17889454
  11. Combined haplotype relative risk (CHRR): a general and simple genetic association test that combines trios and unrelated case-controls.
    Genet Epidemiol. 2009 Jan;33(1):54-62 PMID: 18636528
  12. Medical sequencing of candidate genes for nonsyndromic cleft lip and palate.
    PLoS Genet. 2005 Dec;1(6):e64 PMID: 16327884
  13. De novo direct duplication 2 (p12-->p21) with paternally inherited pericentric inversion 2p11.2 2q12.2.
    Clin Genet. 1998 Jul;54(1):65-9 PMID: 9727743
  14. Vax1, a novel homeobox-containing gene, directs development of the basal forebrain and visual system.
    Genes Dev. 1999 Dec 1;13(23):3106-14 PMID: 10601036
Article Info
Journal
Nature genetics
Abbr.
Nat Genet
ISSN
1546-1718
DOI
10.1038/ng.506
Email
e.mangold@uni-bonn.de
Published
2010-01-00
Epub
2009-00-20
Pages
24-6
Language
English
Region
United States
NLM ID
9216904
Subset
IM
Databases
RefSeq
NM_001103184, NM_001112704, NM_001127211, NM_001202, NM_005450, NM_005842, NM_006147, NM_013372, NM_018330, NM_022065, NM_130850, NM_130851, NM_199131
External Links
PubMed source DOI: 10.1038/ng.506 View journal details
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