Bmp4 was associated with nscl/p in an asian population

Qianqian Chen, Hong Wang, Jacqueline B. Hetmanski, Tianxiao Zhang, Ingo Ruczinski, Holger Schwender, Kung Yee Liang, M. Daniele Fallin, Richard J. Redett, Gerald V. Raymond, Yah Huei Chou, Philip Kuo Ting ChenPhilip, Vincent Yeow, Samuel S. Chong, Felicia S.H. Cheah, Ethylin Wang Jabs, Alan F. Scott, Terri H. Beaty

Research output: Contribution to journalArticlepeer-review

25 Scopus citations


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.

Original languageEnglish (US)
Article numbere35347
JournalPloS one
Issue number4
StatePublished - Apr 13 2012

All Science Journal Classification (ASJC) codes

  • General


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