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A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4

Beaty, TH and Murray, JC and Marazita, ML and Munger, RG and Ruczinski, I and Hetmanski, JB and Liang, KY and Wu, T and Murray, T and Fallin, MD and Redett, RA and Raymond, G and Schwender, H and Jin, SC and Cooper, ME and Dunnwald, M and Mansilla, MA and Leslie, E and Bullard, S and Lidral, AC and Moreno, LM and Menezes, R and Vieira, AR and Petrin, A and Wilcox, AJ and Lie, RT and Jabs, EW and Wu-Chou, YH and Chen, PK and Wang, H and Ye, X and Huang, S and Yeow, V and Chong, SS and Jee, SH and Shi, B and Christensen, K and Melbye, M and Doheny, KF and Pugh, EW and Ling, H and Castilla, EE and Czeizel, AE and Ma, L and Field, LL and Brody, L and Pangilinan, F and Mills, JL and Molloy, AM and Kirke, PN and Scott, JM and Arcos-Burgos, M and Scott, AF (2010) A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4. Nature Genetics, 42 (6). 525 - 529. ISSN 1061-4036

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Case-parent trios were used in a genome-wide association study of cleft lip with and without cleft palate. SNPs near two genes not previously associated with cleft lip with and without cleft palate (MAFB, most significant SNP rs13041247, with odds ratio (OR) per minor allele = 0.704, 95% CI 0.635-0.778, P = 1.44 × 10-11; and ABCA4, most significant SNP rs560426, with OR = 1.432, 95% CI 1.292-1.587, P = 5.01 × 10-12) and two previously identified regions (at chromosome 8q24 and IRF6) attained genome-wide significance. Stratifying trios into European and Asian ancestry groups revealed differences in statistical significance, although estimated effect sizes remained similar. Replication studies from several populations showed confirming evidence, with families of European ancestry giving stronger evidence for markers in 8q24, whereas Asian families showed stronger evidence for association with MAFB and ABCA4. Expression studies support a role for MAFB in palatal development. © 2010 Nature America, Inc. All rights reserved.


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Item Type: Article
Status: Published
CreatorsEmailPitt UsernameORCID
Beaty, TH
Murray, JC
Marazita, MLmarazita@pitt.eduMARAZITA
Munger, RG
Ruczinski, I
Hetmanski, JB
Liang, KY
Wu, T
Murray, T
Fallin, MD
Redett, RA
Raymond, G
Schwender, H
Jin, SC
Cooper, ME
Dunnwald, M
Mansilla, MA
Leslie, Eejl40@pitt.eduEJL40
Bullard, S
Lidral, AC
Moreno, LM
Menezes, R
Vieira, ARarv11@pitt.eduARV11
Petrin, A
Wilcox, AJ
Lie, RT
Jabs, EW
Wu-Chou, YH
Chen, PK
Wang, H
Ye, X
Huang, S
Yeow, V
Chong, SS
Jee, SH
Shi, B
Christensen, K
Melbye, M
Doheny, KF
Pugh, EW
Ling, H
Castilla, EE
Czeizel, AE
Ma, L
Field, LL
Brody, L
Pangilinan, F
Mills, JL
Molloy, AM
Kirke, PN
Scott, JM
Arcos-Burgos, M
Scott, AF
Date: 1 June 2010
Date Type: Publication
Journal or Publication Title: Nature Genetics
Volume: 42
Number: 6
Page Range: 525 - 529
DOI or Unique Handle: 10.1038/ng.580
Schools and Programs: School of Dental Medicine > Dental Science
Refereed: Yes
ISSN: 1061-4036
MeSH Headings: ATP-Binding Cassette Transporters--genetics; Animals; Asian Continental Ancestry Group--genetics; Cleft Lip--genetics; Cleft Palate--genetics; European Continental Ancestry Group--genetics; Female; Genetic Predisposition to Disease; Genome-Wide Association Study; Genotype; Humans; MafB Transcription Factor--genetics; Mice; Polymorphism, Single Nucleotide
Other ID: NLM NIHMS220367, NLM PMC2941216
PubMed Central ID: PMC2941216
PubMed ID: 20436469
Date Deposited: 20 Sep 2012 19:42
Last Modified: 22 Jun 2021 13:56


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