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Advances in the study of susceptibility genes of cleft lip and palate


Professor Zhuan Bian’s team and Professor Liangdan Sun’s team from Anhui Medical University jointly completed the research of susceptibility genes of cleft lip and palate in Chinese Han population. The relevant results titled "Genome-wide analyses of non-syndromic cleft lip with palate identify fourteen novel loci and genetic heterogeneity" were published in Nature Communications on February 24, 2017. This study was supported by the National Natural Science Foundation of China (81120108010, 81470727, 81300870, and, 81571438), the national key research and development program (2016YFC1000505), and the pre-973 project (2012CB722404).

Cleft lip and palate is the most common craniofacial birth defects with soft tissue deformity and different degrees of bone defect, which results in serious impacts on the affected children's eating, facial appearance, speech development, psychological and social aspects and has brought the huge medical burden to the children's family and society. Influence factors of cleft lip and palate occurred with different ethnic, social environment, economic conditions, etc. The incidence of cleft lip and palate in newborns is about 1.42/1000 in China, which is one of the highest incidence rates worldwide. Non-Syndromic Cleft Lip with Palate (NSCLP) is the most common and serious subtype. So the study on the pathogenesis of NSCLP is of important significance.

NSCLP occurs under the interaction of genetic factors and environmental factors, in which genetic factors play an important role. With the largest known cleft cohort, Professor Zhuan Bian’s group utilized Genome-Wide Association, Study (GWAS) and found 14 new NSCLP-related susceptibility genes, and verified the 12 susceptibility loci reported in previous GWAS. Based on the analysis of sub-phenotypes and different ethinities, they provided further evidence that genetic heterogeneity existed between different clinical phenotypes and different races. The results of this project not only deepen the understanding of genetic mechanism of non-syndromic cleft lip and palate, but also provide the basis for early intervention of prevention and control strategy.