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

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, Yadi Li, Hongbing Jiang, Lan Xie, Yuyang Jiang, Bing Shi, Jing Cheng, Hongbing Shen (), Lin Wang () and Yinxue Yang ()
Additional contact information
Yimin Sun: Medical Systems Biology Research Center, Tsinghua University School of Medicine
Yongqing Huang: General Hospital of Ningxia Medical University
Aihua Yin: Medical Genetic Center, Guangdong Women and Children Hospital
Yongchu Pan: Jiangsu Key Laboratory of Oral Diseases, Nanjing Medical University
Yirui Wang: Medical Systems Biology Research Center, Tsinghua University School of Medicine
Cheng Wang: State Key Laboratory of Reproductive Medicine, Nanjing Medical University
Yong Du: General Hospital of Ningxia Medical University
Meilin Wang: the Key Laboratory of Modern Toxicology of Ministry of Education, School of Public Health, Nanjing Medical University
Feifei Lan: Medical Genetic Center, Guangdong Women and Children Hospital
Zhibin Hu: State Key Laboratory of Reproductive Medicine, Nanjing Medical University
Guoqing Wang: CapitalBio Corporation
Min Jiang: General Hospital of Ningxia Medical University
Junqing Ma: Jiangsu Key Laboratory of Oral Diseases, Nanjing Medical University
Xiaozhuang Zhang: Thalassemia Diagnosis Centre, Guangdong Women and Children Hospital
Hongxia Ma: State Key Laboratory of Reproductive Medicine, Nanjing Medical University
Jian Ma: General Hospital of Ningxia Medical University
Weibing Zhang: Jiangsu Key Laboratory of Oral Diseases, Nanjing Medical University
Qun Huang: Guangdong Women and Children Hospital
Zhongwei Zhou: General Hospital of Ningxia Medical University
Lan Ma: Jiangsu Key Laboratory of Oral Diseases, Nanjing Medical University
Yadi Li: General Hospital of Ningxia Medical University
Hongbing Jiang: Jiangsu Key Laboratory of Oral Diseases, Nanjing Medical University
Lan Xie: Medical Systems Biology Research Center, Tsinghua University School of Medicine
Yuyang Jiang: The State Key Laboratory Breeding Base-Shenzhen Key Laboratory of Chemical Biology, The Graduate School at Shenzhen, Tsinghua University
Bing Shi: The State Key Laboratory of Oral Diseases, Sichuan University
Jing Cheng: Medical Systems Biology Research Center, Tsinghua University School of Medicine
Hongbing Shen: State Key Laboratory of Reproductive Medicine, Nanjing Medical University
Lin Wang: Jiangsu Key Laboratory of Oral Diseases, Nanjing Medical University
Yinxue Yang: General Hospital of Ningxia Medical University

Nature Communications, 2015, vol. 6, issue 1, 1-7

Abstract: 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.

Date: 2015
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DOI: 10.1038/ncomms7414

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