Progress in studies on the genetic risk factors for nonsyndromic cleft lip or palate in China
10.3760/cma.j.issn.1002-0098.2017.04.006
- VernacularTitle: 中国人群非综合征型唇腭裂易感基因的研究进展
- Author:
Yongqing HUANG
1
Author Information
1. Department of Oral and Maxillofacial Surgery, Affiliated Hospital of Stomatology, Ningxia Medical University & Hospital of Stomatology, The General Hospital of Ningxia Medical University, Yinchuan 750004, China
- Publication Type:Review
- Keywords:
Cleft lip;
Cleft palate;
Genome-wide association study;
Risk factors;
Population sruveillance
- From:
Chinese Journal of Stomatology
2017;52(4):223-228
- CountryChina
- Language:Chinese
-
Abstract:
Cleft lip and palate is the most common congenital defects of oral and maxillofacial region in human beings. The etiology of this malformation is complex, with both genetic and environmental causal factors are involved. To provide a better understanding in the genetic etiology of cleft lip or palate, the author summarized recent years studies based on Chinese population. Those researches included validation of some candidate genes for cleft lip or palate, using genome wide association analysis which included six independent cohorts from China to elucidate the genetic architecture of non-syndromic cleft lip with or without cleft palate in Chinese population and finally found a new susceptibility locus. This locus was on the 16p13.3 (rs8049367) between CREBBP and ADCY9. It has been mentioned common methods of genetic analysis involved in the researches on cleft lip or palate in this paper. Furthermore, we try to discuss new methods to illustrate the etiology of cleft lip and palate that could provide more inspiration on future researches.
