Details

Autor(en) / Beteiligte

• Sun, Yimin
• Huang, Yongqing
• Yin, Aihua
• Pan, Yongchu
• Wang, Yirui
• Wang, Cheng
• Du, Yong
• Wang, Meilin
• Lan, Feifei
• Hu, Zhibin
• Wang, Guoqing
• Jiang, Min
• Ma, Junqing
• Zhang, Xiaozhuang
• Ma, Hongxia
• Ma, Jian
• Zhang, Weibing
• Huang, Qun
• Zhou, Zhongwei
• Ma, Lan
• Li, Yadi
• Jiang, Hongbing
• Xie, Lan
• Jiang, Yuyang
• Shi, Bing
• Cheng, Jing
• Shen, Hongbing
• Wang, Lin
• Yang, Yinxue

Titel

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

Ist Teil von

• Nature communications, 2015-03, Vol.6 (1), p.6414, Article 6414

Ort / Verlag

England: Nature Publishing Group

Erscheinungsjahr

2015

Quelle

MEDLINE

Beschreibungen/Notizen

• 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.