The Identification Of Susceptibility Genes Of Type 2 Diabetes In Chinese Han Population Using SNP As Genetic Marker

AIM: Type2 diabetes is a common metabolic disease with complex genetic components. Several susceptibility loci and candidate genes of the disease have been reported, but the results differ a lot in different populations because of the strong genetic heterogeneity, and the report from Chinese population remains less. In this study, based on the six candidate susceptibility genes found in our previous work, we selected 15 candidate genes to investigate their contribution to susceptibility to type2 diabetes in Chinese Han population.METHODS: The candidate genes were genotyped using single nucleotide polymorphisms (SNPs) as genetic marker in a population-based sample (502 type2 diabetics vs 501 controls) and confirmed by the TDT analysis in 77 trio pedigrees comprising one affected offspring and two parents by means of PCR, DNA sequencing and ARMS. The haplotypes were constructed by phase 2.0 and revised by allele-specific PCR.RESULETS: In the case-control study, we have examined the SNPs across totally 15 candidate genes, and here we reported a KCNJ11 gene that was strongly associated with type2 diabetes in Chinese Han population, in which the allele frequency of SNP rs5219 ( x2 =4.405, p=0.036, OR=1.210), the genotype frequency of rs5210, rs2285676 & rs5219 and the frequency of haplotype GA combined of the rs5219 & rs5215 (x2 =6.431, p=0.011,...