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[Functional analysis of the single nucleotide polymorphisms in the PRKCZ gene]
Hong-xia Sun1, Wei-nan Du, Yun-feng Li
1National Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, CAMS, PUMC, Beijing 100005, China.
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.
Conclusion:
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.