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

Unknown

研究成果: 雜誌貢獻文章

325 引文 (Scopus)

摘要

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.
原文英語
頁(從 - 到)525-529
頁數5
期刊Nature Genetics
42
發行號6
DOIs
出版狀態已發佈 - 六月 1 2010
對外發佈Yes

指紋

Cleft Lip
Genome-Wide Association Study
Cleft Palate
Single Nucleotide Polymorphism
Odds Ratio
Chromosomes
Alleles
Genome
Population
Genes

ASJC Scopus subject areas

  • Genetics

引用此文

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

於: Nature Genetics, 卷 42, 編號 6, 01.06.2010, p. 525-529.

研究成果: 雜誌貢獻文章

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title = "A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4",
abstract = "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.",
author = "Unknown and Beaty, {Terri H.} and Murray, {Jeffrey C.} and Marazita, {Mary L.} and Munger, {Ronald G.} and Ingo Ruczinski and Hetmanski, {Jacqueline B.} and Liang, {Kung Yee} and Tao Wu and Tanda Murray and Fallin, {M. Daniele} and Redett, {Richard A.} and Gerald Raymond and Holger Schwender and Jin, {Sheng Chih} and Cooper, {Margaret E.} and Martine Dunnwald and Mansilla, {Maria A.} and Elizabeth Leslie and Stephen Bullard and Lidral, {Andrew C.} and Moreno, {Lina M.} and Renato Menezes and Vieira, {Alexandre R.} and Aline Petrin and Wilcox, {Allen J.} and Lie, {Rolv T.} and Jabs, {Ethylin W.} and Wu-Chou, {Yah Huei} and Chen, {Philip K.} and Hong Wang and Xiaoqian Ye and Shangzhi Huang and Vincent Yeow and Chong, {Samuel S.} and Jee, {Sun Ha} and Bing Shi and Kaare Christensen and Mads Melbye and Doheny, {Kimberly F.} and Pugh, {Elizabeth W.} and Hua Ling and Castilla, {Eduardo E.} and Czeizel, {Andrew E.} and Lian Ma and Field, {L. Leigh} and Lawrence Brody and Faith Pangilinan and Mills, {James L.} and Molloy, {Anne M.} and Kirke, {Peadar N.}",
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T1 - A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4

AU - Unknown

AU - Beaty, Terri H.

AU - Murray, Jeffrey C.

AU - Marazita, Mary L.

AU - Munger, Ronald G.

AU - Ruczinski, Ingo

AU - Hetmanski, Jacqueline B.

AU - Liang, Kung Yee

AU - Wu, Tao

AU - Murray, Tanda

AU - Fallin, M. Daniele

AU - Redett, Richard A.

AU - Raymond, Gerald

AU - Schwender, Holger

AU - Jin, Sheng Chih

AU - Cooper, Margaret E.

AU - Dunnwald, Martine

AU - Mansilla, Maria A.

AU - Leslie, Elizabeth

AU - Bullard, Stephen

AU - Lidral, Andrew C.

AU - Moreno, Lina M.

AU - Menezes, Renato

AU - Vieira, Alexandre R.

AU - Petrin, Aline

AU - Wilcox, Allen J.

AU - Lie, Rolv T.

AU - Jabs, Ethylin W.

AU - Wu-Chou, Yah Huei

AU - Chen, Philip K.

AU - Wang, Hong

AU - Ye, Xiaoqian

AU - Huang, Shangzhi

AU - Yeow, Vincent

AU - Chong, Samuel S.

AU - Jee, Sun Ha

AU - Shi, Bing

AU - Christensen, Kaare

AU - Melbye, Mads

AU - Doheny, Kimberly F.

AU - Pugh, Elizabeth W.

AU - Ling, Hua

AU - Castilla, Eduardo E.

AU - Czeizel, Andrew E.

AU - Ma, Lian

AU - Field, L. Leigh

AU - Brody, Lawrence

AU - Pangilinan, Faith

AU - Mills, James L.

AU - Molloy, Anne M.

AU - Kirke, Peadar N.

PY - 2010/6/1

Y1 - 2010/6/1

N2 - 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.

AB - 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.

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