[Functional analysis of the single nucleotide polymorphisms in the PRKCZ gene].
OBJECTIVE
To 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.


METHODS
Bioinformatic methods and reporter gene activity determination were used to analyze the function of the 5 SNPs.


RESULTS
The 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.


CONCLUSIONS
The 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.
Sun
Hong-xia
HX
National Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, CAMS, PUMC, Beijing 100005, China.
Du
Wei-nan
WN
Li
Yun-feng
YF
Zuo
Jin
J
Wu
Guo-dong
GD
Shen
Yan
Y
Qiang
Bo-qin
BQ
Yao
Zhi-jian
ZJ
Hang
Jian-mei
JM
Luo
Hui-yuan
HY
Wang
Heng
H
Huang
Wei
W
Chen
Zhu
Z
Fang
Fu-de
FD
D000483:Alleles; D044466:Asian People; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics*; D005006:Ethnicity; D020022:Genetic Predisposition to Disease; D006801:Humans; D020641:Polymorphism, Single Nucleotide; D011493:Protein Kinase C / Q000235:genetics*; D051745:Protein Kinase C-delta
C497258:PRKCD protein, human; D011493:Protein Kinase C; D051745:Protein Kinase C-delta