Abstract:

Objective To study the correlation of ALDH7A1 gene polymorphism locus rs2306619, rs2306618, rs12514417, rs2306617 and rs4379190 with type 2 diabetes mellitus among Chinese Hubei Suizhou Han population. Methods A total of 220 healthy controls and 240 unrelated patients with type 2 diabetes mellitus were enrolled, and all of them were from Han urban residents in Hubei Suizhou. The DNA was extracted from white blood cell of peripheral blood by standard method. The 5 polymorphism loci (rs2306619, rs2306618, rs12514417, rs2306617 and rs4379190) were amplified through designed sequence primer, and the sequence analysis was performed. The single nucleotide polymorphism and linkage disequilibrium of ALDH7A1 gene 5 polymorphism loci were analyzed statistically by SHEsis software. The differences and haplotypes of 5 locus allele frequencies and genotype frequencies were compared between type 2 diabetes mellitus group and control group. Results Five locus minimum allele frequencies were 0.492, 0.084, 0.124, 0.277 and 0.259. Linkage disequilibrium test showed 5 loci with strong linkage disequilibrium. The ALDH7A1 gene 5 locus allele frequencies and genotype frequencies in the 2 groups had no statistical significance. Haplotype analysis showed C-A-A-A-T, T- A- A- A-T, T-A-A-G-C, T-A-C-A-T and T-G-A-G-C haplotypes, and the 5 haplotypes intype 2 diabetes mellitus group and control group had no statistical significance. Conclusions The 5 polymorphism loci of ALDH7A1 gene may be the susceptibility genes for the patients with type 2 diabetes mellitus in Chinese Hubei Suizhou Han population. The results of the present study are needed to validate in larger populations.

Key words: Type 2 diabetes mellitus, ALDH7A1 gene, Single nucleotide polymorphism, Haplotype