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Genome-wide association study identifies a new susceptibility locus for cleft lip with or without a cleft palate.

Abstract：

:Nonsyndromic cleft lip with or without a cleft palate (NSCL/P) is among the most common human congenital birth defects and imposes a substantial physical and financial burden on affected individuals. Here, we conduct a case-control-based GWAS followed by two rounds of replication; we include six independent cohorts from China to elucidate the genetic architecture of NSCL/P in Chinese populations. Using this combined analysis, we identify a new locus at 16p13.3 associated with NSCL/P: rs8049367 between CREBBP and ADCY9 (odds ratio=0.74, P=8.98 × 10(-12)). We confirm that the reported loci at 1q32.2, 10q25.3, 17p13.1 and 20q12 are also involved in NSCL/P development in Chinese populations. Our results provide additional evidence that the rs2235371-related haplotype at 1q32.2 could play a more important role than the previously identified causal variant rs642961 in Chinese populations. These findings provide information on the genetic basis and mechanisms of NSCL/P.

journal_name

Nat Commun

journal_title

Nature communications

authors

Sun Y,Huang Y,Yin A,Pan Y,Wang Y,Wang C,Du Y,Wang M,Lan F,Hu Z,Wang G,Jiang M,Ma J,Zhang X,Ma H,Ma J,Zhang W,Huang Q,Zhou Z,Ma L,Li Y,Jiang H,Xie L,Jiang Y,Shi B,Cheng J,Shen H,Wang L,Yang Y

doi

10.1038/ncomms7414

subject

Has Abstract

pub_date

2015-03-16 00:00:00

pages

6414

issn

2041-1723

pii

ncomms7414

journal_volume

6

pub_type

杂志文章,meta分析

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