<p><b>OBJECTIVE</b>To identify the susceptibility
genes of
type 2 diabetes in
Chinese Han
population.</p><p><b>
METHODS</b>
Single nucleotide polymorphism (SNP) discovery, genotyping and
haplotype construction were performed in 30 candidate
genes.
Case-control study were carried out in a
population-based sample and confirmed by the
transmission disequilibrium test (TDT)
analysis in 77 trio pedigrees. The effects of the SNP rs5210 on
gene expression were studied by
reporter gene technique.</p><p><b>RESULTS</b>The
case-control studies showed that several
SNPs on KCNJ11
gene was associated with
type 2 diabetes in
Chinese Han
population, in which the
allele frequency of SNP rs5219, the
genotype frequency of rs5210, rs2285676 and rs5219, and the frequency of
haplotype GA combined of the rs5219 and rs5215 showed significant difference between these two groups (P < 0.05). In addition, TDT test also showed statistical significance on this
haplotype GA (P < 0. 05). The
reporter gene assay showed that the effect on
gene expression was significantly different between two
alleles of rs5210 (P < 0.05).</p><p><b>CONCLUSION</b>KCNJII
gene is one of the susceptibility
genes of
type 2 diabetes in
Chinese Han
population.</p>