Association Between Genes on Chromosome 4p16 and Non-syndromic Oral Clefts in Four Populations

Overview

Journal Eur J Hum Genet

Specialty Genetics

Date 2010 Jan 21

PMID 20087401

Citations 14

Authors

Roxann G Ingersoll

Jacqueline Hetmanski

Ji-Wan Park

M Daniele Fallin

Iain McIntosh

Yah-Huei Wu-Chou

Philip K Chen

Vincent Yeow

Samuel S Chong

Felicia Cheah

Jae Woong Sull

Sun Ha Jee

Hong Wang

Tao Wu

Tanda Murray

Shangzhi Huang

Xiaoqian Ye

Ethylin Wang Jabs

Richard Redett

Gerald Raymond

Alan F Scott

Terri H Beaty

Affiliations

Soon will be listed here.

Abstract

Isolated cleft lip with or without cleft palate and cleft palate are among the most common human birth defects. Several candidate gene studies on MSX1 have shown significant association between markers in MSX1 and risk of oral clefts, and re-sequencing studies have identified multiple mutations in MSX1 in a small minority of cases, which may account for 1-2% of all isolated oral clefts cases. We explored the 2-Mb region around MSX1, using a marker map of 393 single nucleotide polymorphisms (SNPs) in 297 cleft lip, with or without cleft palate, case-parent trios and 84 cleft palate trios from Maryland, Taiwan, Singapore, and Korea. Both individual markers and haplotypes of two to five SNPs showed several regions yielding statistical evidence for linkage and disequilibrium. Two genes (STK32B and EVC) yielded consistent evidence from cleft lip, with or without cleft palate, trios in all four populations. These two genes plus EVC2 also yielded suggestive evidence for linkage and disequilibrium among cleft palate trios. This analysis suggests that several genes, not just MSX1, in this region may influence risk of oral clefts.

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