| Type 2 diabetes is a complex disorder with strong genetic background. In our previous genome-wide screening , we have localized several susceptibility loci to the chromosomes 1 and found 6 susceptibility genes including protein kinase zeta (PKCzeta), urotensin 2 (UTS2), caspase 9 (CASP9), cell division cycle 2-like 2 (CDC2L2 ), phosphogluconate dehydrogenase (PGD) & testicular soluble adenylyl cyclase (SAC) .In order to further identify the susceptibility genes in Chinese Han population, in this research, while thoroughly bioinformatics retrieving, we selected 12 candidate genes in susceptibility loci 1q21.3-25.1 & 1q31.3-42.13 and 3 candidate genes in the function-related genes of PKCzeta & SAC,based on the previous achievements, and set up a case-control study. The candidate genes were genotyped using single nucleotide polymorphisms (SNPs) as genetic marker by means of PCR, DNA sequencing and ARMS. The haplotypes were constructed by phase 2.0 and revised by allele-specific PCR. 36 SNP (frequency>15%) were genotyped and a SNP rs1555102 in the candidate gene of KIAA0859 showed association with type2 diabetes, the allele frequency of SNP rs1555102 ( x~2 =4.417, p=0.03, OR=0.637) and some of its genotype frequency showed significant difference between case and control group. but the statistical significance disappeared after the sample was enlarged to 600. The three major haplotypes (AGTGT, GACTC &... |
