Functional analysis of the single nucleotide polymorphisms in the PRKCZ gene.
- Author:
Hong-xia SUN
1
;
Wei-nan DU
;
Yun-feng LI
;
Jin ZUO
;
Guo-dong WU
;
Yan SHEN
;
Bo-qin QIANG
;
Zhi-jian YAO
;
Jian-mei HANG
;
Hui-yuan LUO
;
Heng WANG
;
Wei HUANG
;
Zhu CHEN
;
Fu-de FANG
Author Information
- Publication Type:Journal Article
- MeSH: Alleles; Asian Continental Ancestry Group; Diabetes Mellitus, Type 2; genetics; Ethnic Groups; Genetic Predisposition to Disease; Humans; Polymorphism, Single Nucleotide; Protein Kinase C; genetics; Protein Kinase C-delta
- From: Acta Academiae Medicinae Sinicae 2002;24(5):471-473
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo study the function of 5 single nucleotide polymorphisms (SNPs) of the PRKCZ gene, a susceptibility gene for type 2 diabetes in Han population of North China, in the pathogenesis of the disease.
METHODSBioinformatic methods and reporter gene activity determination were used to analyze the function of the 5 SNPs.
RESULTSThe reporter gene activities of different alleles of 2 SNPs, rs427811 and rs809912, were obviously different, which implies that these 2 SNPs might be susceptibility loci of the disease.
CONCLUSIONThe PRKCZ gene is further confirmed to be a susceptibility gene for type 2 diabetes in Han population of North China. Two SNPs in the gene play a role in the pathogenesis of the disease by affecting the expression level of PRKCZ gene.
