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学科主题: 公共卫生
题名:
Genome Wide Study of Maternal and Parent-of-Origin Effects on the Etiology of Orofacial Clefts
作者: Shi, Min1; Murray, Jeffrey C.2; Marazita, Mary L.3; Munger, Ronald G.4; Ruczinski, Ingo5; Hetmanski, Jacqueline B.6; Wu, Tao6,7; Murray, Tanda6; Redett, Richard J.8; Wilcox, Allen J.9; Lie, Rolv T.10; Jabs, Ethylin Wang11,12; Wu-Chou, Yah Huei13; Chen, Philip K.13; Wang, Hong7; Ye, Xiaoqian12,14; Yeow, Vincent15; Chong, Samuel S.16; Shi, Bing17; Christensen, Kaare18; Scott, Alan F.11; Patel, Poorav6; Cheah, Felicia16; Beaty, Terri H.6
关键词: GWAS ; CL/P ; CP ; maternal genes ; parent-of-origin ; family-based study ; association study
刊名: AMERICAN JOURNAL OF MEDICAL GENETICS PART A
发表日期: 2012-04-01
DOI: 10.1002/ajmg.a.35257
卷: 158A, 期:4, 页:784-794
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Genetics & Heredity
研究领域[WOS]: Genetics & Heredity
关键词[WOS]: LINKAGE DISEQUILIBRIUM ; 4 POPULATIONS ; FLIP-FLOP ; PALATE ; LIP ; GENE ; ASSOCIATION ; RISK ; TRANSMISSION ; REVEALS
英文摘要:

We performed a genome wide association analysis of maternally-mediated genetic effects and parent-of-origin (POO) effects on risk of orofacial clefting (OC) using over 2,000 case-parent triads collected through an international cleft consortium. We used log-linear regression models to test individual SNPs. For SNPs with a P-value <10(-5) for maternal genotypic effects, we also applied a haplotype-based method, TRIMM, to extract potential information from clusters of correlated SNPs. None of the SNPs were significant at the genome wide level. Our results suggest neither maternal genome nor POO effects play major roles in the etiology of OC in our sample. This finding is consistent with previous genetic studies and recent population-based cohort studies in Norway and Denmark, which showed no apparent difference between mother-to-offspring and father-to-offspring recurrence of clefting. We, however, cannot completely rule out maternal genome or POO effects as risk factors because very small effects might not be detectable with our sample size, they may influence risk through interactions with environmental exposures or may act through a more complex network of interacting genes. Thus, the most promising SNPs identified by this study may still be worth further investigation. Published 2012. This article is a U.S. Government work and is in the public domain in the USA.

语种: 英语
所属项目编号: U01-DE-018993 ; U01-DE-004425 ; R21-DE-013707 ; R37-DE-08559 ; R01-DE-014581 ; D43 TW06176
项目资助者: National Institute for Dental and Craniofacial Research ; National Institute of Dental &amp ; Craniofacial Research ; International Consortium to Identify Genes &amp ; Interactions Controlling Oral Clefts ; TH Beaty, PI ; NIH ; NIH, National Institute of Environmental Health Sciences
WOS记录号: WOS:000302544200014
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/67193
Appears in Collections:北京大学公共卫生学院_期刊论文

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作者单位: 1.Univ Bergen, Dept Biostat, Bergen, Norway
2.Johns Hopkins Univ, Inst Med Genet, Baltimore, MD USA
3.Chang Gung Mem Hosp, Human Mol Genet Lab, Tao Yuan, Taiwan
4.Univ So Denmar, Odense, Denmark
5.Univ Iowa, Dept Pediat, Iowa City, IA 52242 USA
6.NIEHS, Biostat Branch, NIH, Durham, NC USA
7.Univ Pittsburgh, Sch Dent Med, Dept Oral Biol, Pittsburgh, PA USA
8.Utah State Univ, Dept Nutr & Food Sci, Logan, UT 84322 USA
9.Johns Hopkins Univ, Sch Publ Hlth, Dept Biostat, Baltimore, MD USA
10.Johns Hopkins Univ, Sch Med, Dept Epidemiol, Baltimore, MD USA
11.Peking Univ, Hlth Sci Ctr, Sch Publ Hlth, Dept Epidemiol & Biostat, Beijing 100871, Peoples R China
12.Johns Hopkins Univ, Dept Plast Surg, Sch Med, Baltimore, MD USA
13.NIEHS, Epidemiol Branch N, NIH, Durham, NC USA
14.Mt Sinai Sch Med, Dept Genet & Genom Sci, New York, NY USA
15.KK Womens & Childrens Hosp, Dept Plast Reconstruct & Anesthet Surg, Singapore, Singapore
16.Natl Univ Singapore, Natl Univ Hosp, Deparment Pediat, Singapore 117548, Singapore
17.Sichuan Univ, W China Sch Stomatol, Chengdu 610064, Peoples R China
18.Wuhan Univ, Sch Stomatol, Wuhan 430072, Peoples R China

Recommended Citation:
Shi, Min,Murray, Jeffrey C.,Marazita, Mary L.,et al. Genome Wide Study of Maternal and Parent-of-Origin Effects on the Etiology of Orofacial Clefts[J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART A,2012,158A(4):784-794.
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