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Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity 期刊论文

编号：

312716c6-e616-44bd-8958-951ad9ae6661
作者：

Yu, Yanqin^[1,2];Zuo, Xianbo^{[3,4,5,6,7,8]};He, Miao^[1,2,9];Gao, Jinping^{[3,4,5,6,7,8]};Fu, Yuchuan^[10];Qin, Chuanqi^[1,2,10];Meng, Liuyan^[1,2];Wang, Wenjun^{[3,4,5,6,7,8]};Song, Yaling^[1,2];Cheng, Yong^[1,2];Zhou, Fusheng^{[3,4,5,6,7,8]};Chen, Gang^{[3,4,5,6,7,8]};Zheng, Xiaodong^{[3,4,5,6,7,8]};Wang, Xinhuan^[1,2];Liang, Bo^{[3,4,5,6,7,8]};Zhu, Zhengwei^{[3,4,5,6,7,8]};Fu, Xiazhou^[11,12];Sheng, Yujun^{[3,4,5,6,7,8]};Hao, Jiebing^[13];Liu, Zhongyin^[14];Yan, Hansong^[15];Mangold, Elisabeth^[16];Ruczinski, Ingo^[17];Liu, Jianjun^{[3,4,5,6,7,8]};Marazita, Mary L.^{[18,19,20,21]};Ludwig, Kerstin U.^[16,22];Beaty, Terri H.^[23];Zhang, Xuejun(张学军)^{[3,4,5,6,7,8,24,25,26]}Sun, Liangdan^{[3,4,5,6,7,8,27]};Bian, Zhuan^[1,2];
语种：

英文
期刊：

NATURE COMMUNICATIONS ISSN：2041-1723 2017 年 8 卷 ; FEB 24
收录：
摘要：

Non-syndromic cleft lip with palate (NSCLP) is the most serious sub-phenotype of non-syndromic orofacial clefts (NSOFC), which are the most common craniofacial birth defects in humans. Here we conduct a GWAS of NSCLP with multiple independent replications, totalling 7,404 NSOFC cases and 16,059 controls from several ethnicities, to identify new NSCLP risk loci, and explore the genetic heterogeneity between sub-phenotypes of NSOFC. We identify 41 SNPs within 26 loci that achieve genome-wide significance, 14 of which are novel (RAD54B, TMEM19, KRT18, WNT9B, GSC/DICER1, PTCH1, RPS26, OFCC1/TFAP2A, TAF1B, FGF10, MSX1, LINC00640, FGFR1 and SPRY1). These 26 loci collectively account for 10.94% of the heritability for NSCLP in Chinese population. We find evidence of genetic heterogeneity between the sub-phenotypes of NSOFC and among different populations. This study substantially increases the number of genetic susceptibility loci for NSCLP and provides important insights into the genetic aetiology of this common craniofacial malformation.
推荐引用方式
GB/T 7714：

Yu Yanqin,Zuo Xianbo,He Miao, et al. Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity [J].NATURE COMMUNICATIONS,2017,8.
APA：

Yu Yanqin,Zuo Xianbo,He Miao,Gao Jinping,&Bian Zhuan.(2017).Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity .NATURE COMMUNICATIONS,8.
MLA：

Yu Yanqin, et al. "Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity" .NATURE COMMUNICATIONS 8(2017).
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