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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, Terri H.1; Murray, Jeffrey C.2; Marazita, Mary L.3; Munger, Ronald G.4; Ruczinski, Ingo1; Hetmanski, Jacqueline B.1; Liang, Kung Yee1; Wu, Tao1,5; Murray, Tanda1; Fallin, M. Daniele1; Redett, Richard A.6; Raymond, Gerald6; Schwender, Holger1; Jin, Sheng-Chih1; Cooper, Margaret E.3; Dunnwald, Martine2; Mansilla, Maria A.2; Leslie, Elizabeth2; Bullard, Stephen7; Lidral, Andrew C.7; Moreno, Lina M.7; Menezes, Renato3; Vieira, Alexandre R.3; Petrin, Aline2; Wilcox, Allen J.8; Lie, Rolv T.9; Jabs, Ethylin W.6,10; Wu-Chou, Yah Huei11; Chen, Philip K.11; Wang, Hong6; Ye, Xiaoqian10,12; Huang, Shangzhi13; Yeow, Vincent14; Chong, Samuel S.15; Jee, Sun Ha16; Shi, Bing17; Christensen, Kaare18; Melbye, Mads19; Doheny, Kimberly F.20; Pugh, Elizabeth W.20; Ling, Hua20; Castilla, Eduardo E.21; Czeizel, Andrew E.22; Ma, Lian23; Field, L. Leigh24; Brody, Lawrence25; Pangilinan, Faith25; Mills, James L.26; Molloy, Anne M.27; Kirke, Peadar N.28; Scott, James M.27; Arcos-Burgos, Mauricio29; Scott, Alan F.6
刊名NATURE GENETICS
2010-06-01
DOI10.1038/ng.580
42期:6页:525-U76
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Genetics & Heredity
资助者National Institute for Dental and Craniofacial Research ; International Consortium to Identify Genes and Interactions Controlling Oral Clefts ; National Human Genome Research Institute (NHGRI) ; US National Institutes of Health (NIH) ; March of Dimes Basil O&prime ; Connor award ; Research Grant ; NIH ; Canadian Institutes of Health Research ; NIH National Institute of Environmental Health Sciences ; National Institute for Dental and Craniofacial Research ; International Consortium to Identify Genes and Interactions Controlling Oral Clefts ; National Human Genome Research Institute (NHGRI) ; US National Institutes of Health (NIH) ; March of Dimes Basil O&prime ; Connor award ; Research Grant ; NIH ; Canadian Institutes of Health Research ; NIH National Institute of Environmental Health Sciences
研究领域[WOS]Genetics & Heredity
关键词[WOS]INTERFERON-REGULATORY-FACTOR-6 IRF6 ; UNIFIED APPROACH ; RELATIVES ; COHORT ; MARKER ; TESTS
英文摘要

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 x 10(-11); and ABCA4, most significant SNP rs560426, with OR = 1.432, 95% CI 1.292-1.587, P = 5.01 x 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.

语种英语
所属项目编号U01-DE-018993 ; 2007 2009 ; HHSN268200782096C ; FY 98-0718 ; 6-FY01-61 ; R03-AR-055313 ; P50-DE-16215 ; K99-DE-018441 ; MT-11263 ; R01-DE-014581 ; R37-DE08559 ; R01-DE09886 ; R01-DE012472 ; R01-DE014677 ; R01-DE016148 ; P50-DE016215 ; R21-DE016930 ; R01-HD390661 ; R01-DE016877 ; JK02-AEO15291
资助者National Institute for Dental and Craniofacial Research ; International Consortium to Identify Genes and Interactions Controlling Oral Clefts ; National Human Genome Research Institute (NHGRI) ; US National Institutes of Health (NIH) ; March of Dimes Basil O&prime ; Connor award ; Research Grant ; NIH ; Canadian Institutes of Health Research ; NIH National Institute of Environmental Health Sciences ; National Institute for Dental and Craniofacial Research ; International Consortium to Identify Genes and Interactions Controlling Oral Clefts ; National Human Genome Research Institute (NHGRI) ; US National Institutes of Health (NIH) ; March of Dimes Basil O&prime ; Connor award ; Research Grant ; NIH ; Canadian Institutes of Health Research ; NIH National Institute of Environmental Health Sciences
WOS记录号WOS:000278081500019
引用统计
被引频次:242[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/62471
专题北京大学口腔医学院
作者单位1.Natl Univ Singapore, Singapore 117548, Singapore
2.Univ So Denmark, Odense, Denmark
3.Statens Serum Inst, DK-2300 Copenhagen, Denmark
4.Johns Hopkins Univ, Ctr Inherited Dis Res, Baltimore, MD USA
5.Fdn Community Control Hereditary Dis, Budapest, Hungary
6.Beijing Univ, Sch Stomatol, Beijing 100871, Peoples R China
7.Trinity Coll Dublin, Dublin, Ireland
8.Hlth Res Board, Dublin, Ireland
9.Univ Miami, Miller Sch Med, Miami, FL 33136 USA
10.Johns Hopkins Univ, Sch Publ Hlth, Baltimore, MD 21218 USA
11.Univ Iowa, Dept Pediat, Iowa City, IA 52242 USA
12.Utah State Univ, Logan, UT 84322 USA
13.Peking Univ, Hlth Sci Ctr, Beijing 100871, Peoples R China
14.Johns Hopkins Univ, Sch Med, Baltimore, MD USA
15.Univ Pittsburgh, Sch Dent Med, Pittsburgh, PA USA
16.Univ Iowa, Dept Orthodont, Iowa City, IA USA
17.NIEHS, NIH, Durham, NC USA
18.Univ Bergen, Bergen, Norway
19.Mt Sinai Sch Med, New York, NY USA
20.Chang Gung Mem Hosp, Tao Yuan, Taiwan
21.Wuhan Univ, Wuhan 430072, Peoples R China
22.Peking Union Med Coll, Beijing 100021, Peoples R China
23.KK Womens & Childrens Hosp, Singapore, Singapore
24.Yonsei Univ, Seoul 120749, South Korea
25.Sichuan Univ, W China Sch Stomatol, Chengdu 610064, Peoples R China
26.Fundacao Oswaldo Cruz FIOCRUZ, Dept Genet, Rio De Janeiro, Brazil
27.Univ British Columbia, Dept Med Genet, Vancouver, BC, Canada
28.NHGRI, NIH, Bethesda, MD 20892 USA
29.NICHHD, NIH, Bethesda, MD 20892 USA
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GB/T 7714
Beaty, Terri H.,Murray, Jeffrey C.,Marazita, Mary L.,et al. A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4[J]. NATURE GENETICS,2010,42(6):525-U76.
APA Beaty, Terri H..,Murray, Jeffrey C..,Marazita, Mary L..,Munger, Ronald G..,Ruczinski, Ingo.,...&Scott, Alan F..(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-U76.
MLA Beaty, Terri H.,et al."A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4".NATURE GENETICS 42.6(2010):525-U76.
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