BMP4 Was Associated with NSCL/P in an Asian Population

被引：20

作者：

Chen, Qianqian ^{[1
]}

Wang, Hong ^{[1
]}

Hetmanski, Jacqueline B. ^{[2
]}

Zhang, Tianxiao ^{[3
]}

Ruczinski, Ingo ^{[2
]}

Schwender, Holger ^{[4
]}

Liang, Kung Yee ^{[5
,6
]}

Fallin, M. Daniele ^{[2
]}

Redett, Richard J. ^{[7
]}

Raymond, Gerald V. ^{[8
]}

Chou, Yah-Huei Wu ^{[9
]}

Chen, Philip Kuo-Ting ^{[10
]}

Yeow, Vincent ^{[11
]}

Chong, Samuel S. ^{[12
]}

Cheah, Felicia S. H. ^{[12
]}

Jabs, Ethylin Wang ^{[13
,14
]}

Scott, Alan F. ^{[15
]}

Beaty, Terri H. ^{[2
]}

机构：

[1] Peking Univ, Sch Publ Hlth, Dept Epidemiol & Biostat, Beijing 100871, Peoples R China

[2] Johns Hopkins Bloomberg Sch Publ Hlth, Dept Epidemiol, Baltimore, MD USA

[3] Washington Univ, Div Biol & Biomed Sci, St Louis, MO USA

[4] TU Dortmund Univ, Dept Fac Stat, Dortmund, Germany

[5] Natl Yang Ming Univ, Dept Life Sci, Taipei 112, Taiwan

[6] Natl Yang Ming Univ, Inst Genome Sci, Taipei 112, Taiwan

[7] Johns Hopkins Univ, Sch Med, Dept Surg, Baltimore, MD 21205 USA

[8] Johns Hopkins Univ, Sch Med, Kennedy Krieger Inst, Baltimore, MD USA

[9] Chang Gung Mem Hosp, Dept Med Res, Taipei 10591, Taiwan

[10] Chang Gung Mem Hosp, Craniofacial Ctr, Taipei 10591, Taiwan

[11] KK Womens & Childrens Hosp, Dept Plast Surg, Singapore, Singapore

[12] Natl Univ Singapore, Dept Pediat, Singapore 117548, Singapore

[13] Johns Hopkins Univ, Sch Med, Dept Pediat, Baltimore, MD 21205 USA

[14] Mt Sinai Sch Med, Dept Genet & Genom Sci, New York, NY USA

[15] Johns Hopkins Univ, Sch Med, Dept Med, Baltimore, MD 21205 USA

来源：

PLOS ONE | 2012年 / 7卷 / 04期

关键词：

NONSYNDROMIC CLEFT-LIP; 4 GENE POLYMORPHISMS; PALATE; LINKAGE; SUSCEPTIBILITY; LIP/PALATE; VARIANTS; FUSION;

D O I：

10.1371/journal.pone.0035347

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

Background: The Bone Morphogenetic Protein 4 gene (BMP4) is located in chromosome 14q22-q23 which has shown evidence of linkage for isolated nonsyndromic cleft lip with or without cleft palate (NSCL/P) in a genome wide linkage analysis of human multiplex families. BMP4 has been shown to play crucial roles in lip and palatal development in animal models. Several candidate gene association analyses also supported its potential risk for NSCL/P, however, results across these association studies have been inconsistent. The aim of the current study was to test for possible association between markers in and around the BMP4 gene and NSCL/P in Asian and Maryland trios. Methodology/Principal Findings: Family Based Association Test was used to test for deviation from Mendelian assortment for 12 SNPs in and around BMP4. Nominal significant evidence of linkage and association was seen for three SNPs (rs10130587, rs2738265 and rs2761887) in 221 Asian trios and for one SNP (rs762642) in 76 Maryland trios. Statistical significance still held for rs10130587 after Bonferroni correction (corrected p = 0.019) among the Asian group. Estimated odds ratio for carrying the apparent high risk allele at this SNP was 1.61 (95% CI = 1.20, 2.18). Conclusions: Our results provided further evidence of association between BMP4 and NSCL/P.

引用

页数：5

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