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- Title
Genome-wide association study identifies a new susceptibility locus for cleft lip with or without a cleft palate.
- Authors
Yimin Sun; Yongqing Huang; Aihua Yin; Yongchu Pan; Yirui Wang; Cheng Wang; Yong Du; Meilin Wang; Feifei Lan; Zhibin Hu; Guoqing Wang; Min Jiang; Junqing Ma; Xiaozhuang Zhang; Hongxia Ma; Jian Ma; Weibing Zhang; Qun Huang; Zhongwei Zhou; Lan Ma
- 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=8.98x10-12). 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.
- Publication
Nature Communications, 2015, Vol 6, Issue 3, p1
- ISSN
2041-1723
- Publication type
Article
- DOI
10.1038/ncomms7414