Association between the JAG2 gene polymorphism and the occurrence of nonsyndromic cleft lip with or without cleft palate in northwest Chinese population
10.3760/cma.j.issn.1003-9406.2020.01.020
- VernacularTitle: 西北地区人群JAG2基因多态性与非综合征性唇腭裂的相关性研究
- Author:
Jie LEI
1
;
Xi SHEN
;
Boshi BI
;
Sixuan ZHAO
;
Ruimin LIU
;
Xiaodong XIE
Author Information
1. School of Life Science, Lanzhou University, Lanzhou, Gansu 730000, China
- Publication Type:Clinical Trail
- Keywords:
Nonsyndromic cleft lip with or without cleft palate;
Single-nucleotide polymorphism;
Association
- From:
Chinese Journal of Medical Genetics
2020;37(1):75-79
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To assess the association of JAG2 gene single nucleotide polymorphisms with the occurrence of nonsyndromic cleft lip with or without cleft palate (NSCLP) among northwest Chinese population.
Methods:A case-control study was carried out on 301 NSCLP patients and 304 healthy controls. An iMLDR™ genotyping technique was used to detect three single nucleotide polymorphisms (SNPs) [rs741859 (T/C), rs11621316 (A/G) and rs1057744(C/T)] of the JAG2 gene. Allelic and genotypic frequencies and haplotypic distribution among the two groups were compared.
Results:A significant difference was found in the frequency of C and T alleles for rs741859 between the two groups. The CT genotype of rs741859 could significantly reduce the risk for NSCLP to 65% (P < 0.05) and the risk for cleft lip with or without cleft palate (CL/P) to 62% (P < 0.05). rs11621316 and rs1057744 are in the same linkage disequilibrium (LD) region with a high degree of linkage (r2 > 0.8), whose distribution difference between the two groups was not statistically significant (P > 0.05).
Conclusion:The CT genotype of the JAG2 gene rs741859 may confer a protective effect for NSCLP among northwest Chinese population.
