| Literature DB >> 25775280 |
Yimin Sun1, Yongqing Huang2, Aihua Yin3, Yongchu Pan4, Yirui Wang5, Cheng Wang6, Yong Du2, Meilin Wang7, Feifei Lan3, Zhibin Hu6, Guoqing Wang8, Min Jiang2, Junqing Ma9, Xiaozhuang Zhang10, Hongxia Ma6, Jian Ma2, Weibing Zhang9, Qun Huang11, Zhongwei Zhou2, Lan Ma9, Yadi Li2, Hongbing Jiang12, Lan Xie13, Yuyang Jiang14, Bing Shi15, Jing Cheng5, Hongbing Shen6, Lin Wang4, Yinxue Yang2.
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.Entities:
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Year: 2015 PMID： 25775280 DOI： 10.1038/ncomms7414
Source DB: PubMed Journal: Nat Commun ISSN： 2041-1723 Impact factor: 14.919