| Title |
Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity
|
|---|---|
| Published in |
Nature Communications, February 2017
|
| DOI | 10.1038/ncomms14364 |
| Pubmed ID | |
| Authors |
Yanqin Yu, Xianbo Zuo, Miao He, Jinping Gao, Yuchuan Fu, Chuanqi Qin, Liuyan Meng, Wenjun Wang, Yaling Song, Yong Cheng, Fusheng Zhou, Gang Chen, Xiaodong Zheng, Xinhuan Wang, Bo Liang, Zhengwei Zhu, Xiazhou Fu, Yujun Sheng, Jiebing Hao, Zhongyin Liu, Hansong Yan, Elisabeth Mangold, Ingo Ruczinski, Jianjun Liu, Mary L. Marazita, Kerstin U. Ludwig, Terri H. Beaty, Xuejun Zhang, Liangdan Sun, Zhuan Bian |
| Abstract |
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. |
Mendeley readers
The data shown below were compiled from readership statistics for 150 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 150 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Bachelor | 16 | 11% |
| Student > Ph. D. Student | 15 | 10% |
| Researcher | 15 | 10% |
| Student > Master | 15 | 10% |
| Student > Doctoral Student | 15 | 10% |
| Other | 33 | 22% |
| Unknown | 41 | 27% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 41 | 27% |
| Biochemistry, Genetics and Molecular Biology | 36 | 24% |
| Agricultural and Biological Sciences | 10 | 7% |
| Unspecified | 8 | 5% |
| Nursing and Health Professions | 3 | 2% |
| Other | 7 | 5% |
| Unknown | 45 | 30% |
Attention Score in Context
This research output has an Altmetric Attention Score of 7. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 07 March 2017.
All research outputs
#4,209,783
of 22,958,253 outputs
Outputs from Nature Communications
#31,366
of 47,253 outputs
Outputs of similar age
#76,167
of 311,651 outputs
Outputs of similar age from Nature Communications
#633
of 911 outputs
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