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学科主题: 公共卫生
题名:
Novel evidence of association with nonsyndromic cleft lip with or without cleft palate was shown for single nucleotide polymorphisms in FOXF2 gene in an Asian population
作者: Wang, Hong2,4; Bu, Lingxue1; Chen, Qianqian2,3; Zhang, Tianxiao5; Hetmanski, Jacqueline B.6; Schwender, Holger7; Parker, Margaret6; Chou, Yah-Huei Wu8; Yeow, Vincent9; Chong, Samuel S.10,11; Zhang, Bo12; Jabs, Ethylin Wang13,14; Scott, Alan F.15; Beaty, Terri H.6
关键词: FBAT ; FOXF2 ; nonsyndromic cleft lip with or without cleft palate ; PLINK ; SNP ; transmission disequilibrium test
刊名: BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY
发表日期: 2015-10-01
DOI: 10.1002/bdra.23413
卷: 103, 期:10, 页:857-862
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Developmental Biology ; Toxicology
研究领域[WOS]: Developmental Biology ; Toxicology
关键词[WOS]: TRANSCRIPTION FACTOR FOXF2 ; GENOME-WIDE ASSOCIATION ; OROFACIAL CLEFTS ; LINKAGE ; LOCUS ; 8Q24
英文摘要:

BACKGROUNDThe forkhead box F2 gene (FOXF2) located in chromosome 6p25.3 has been shown to play a crucial role in palatal development in mouse and rat models. To date, no evidence of linkage or association has been reported for this gene in humans with oral clefts.

METHODSAllelic transmission disequilibrium tests were used to robustly assess evidence of linkage and association with nonsyndromic cleft lip with or without cleft palate for nine single nucleotide polymorphisms (SNPs) in and around FOXF2 in both Asian and European trios using PLINK.

RESULTSStatistically significant evidence of linkage and association was shown for two SNPs (rs1711968 and rs732835) in 216 Asian trios where the empiric P values with permutation tests were 0.0016 and 0.005, respectively. The corresponding estimated odds ratios for carrying the minor allele at these SNPs were 2.05 (95% confidence interval = 1.41, 2.98) and 1.77 (95% confidence interval = 1.26, 2.49), respectively.

CONCLUSIONOur results provided statistical evidence of linkage and association between FOXF2 and nonsyndromic cleft lip with or without cleft palate. Birth Defects Research (Part A) 103:857-862, 2015. (c) 2015 Wiley Periodicals, Inc.

语种: 英语
项目资助者: National Natural Science Foundation of China ; National Institute of Dental &amp ; Cranial Facial Research ; Fogarty Institution
WOS记录号: WOS:000363202400005
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内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/50317
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.Johns Hopkins Bloomberg Sch Publ Hlth, Dept Epidemiol, Baltimore, MD USA
2.Qingdao Univ, Affiliated Hosp, Dept Oral & Maxillofacial Surg, Qingdao 266071, Peoples R China
3.Peking Univ, Sch Publ Hlth, Dept Epidemiol & Biostat, Beijing 100871, Peoples R China
4.Chinese Ctr Dis Control & Prevent, Natl Ctr Publ Hlth Surveillance & Informat Serv, Beijing, Peoples R China
5.Minist Hlth, KeyLab Reprod Hlth, Beijing, Peoples R China
6.Washington Univ, Div Biol & Biomed Sci, St Louis, MO USA
7.Heinrich Heine Univ Duesseldorf, Math Inst, Dusseldorf, Germany
8.Chang Gung Mem Hosp, Dept Med Res, Taipei 10591, Taiwan
9.KK Womens & Childrens Hosp, Dept Plast Surg, Singapore, Singapore
10.Natl Univ Singapore, Yong Loo Lin Sch Med, Dept Pediat, Singapore 117548, Singapore
11.Natl Univ Hlth Syst, Khoo Teck Puat Natl Univ Childrens Med Inst, Singapore, Singapore
12.Xi An Jiao Tong Univ, Dept Biomed Engn, Xian 710049, Peoples R China
13.Icahn Sch Med Mt Sinai, Dept Genet & Genom Sci, New York, NY 10029 USA
14.Johns Hopkins Univ, Sch Med, Dept Pediat, Baltimore, MD 21205 USA
15.Johns Hopkins Univ, Sch Med, Dept Med, Baltimore, MD 21205 USA

Recommended Citation:
Wang, Hong,Bu, Lingxue,Chen, Qianqian,et al. Novel evidence of association with nonsyndromic cleft lip with or without cleft palate was shown for single nucleotide polymorphisms in FOXF2 gene in an Asian population[J]. BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY,2015,103(10):857-862.
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