The Haplotype Study Of Peroxisome Proliferator-Activated Receptor-γ Coactivator 1 For The Korean Individuals-China Humans And The Han Nationality In Yanbian

The haplotype study of Peroxisome Proliferator-Activated Receptor-γCoactivator 1 for The Korean individuals-China humans and the Han nationality in YanbianAim: To detect the distribution of six Single nucleotide polymorphisms, Ser74Leu, IVS2+52C＞A(rs2946385), Asp475Asp(rs17574213), Gly482Ser (rs8192678), Thr528Thr(rs3755863), Ler577Ser(rs17847360). Elected from two differet haplotype block containing part of intron 2 and extending beyond exon 8 of Peroxisome Proliferator-Activated Receptor-γ, Coactivator 1(PGC-1). Method: To sample 2ml vein blood from 180 The Korean individualss-China humans and 192 The Hart nationality of Yanbian, extract genome DNA, to amplificate Peroxisome Proliferator-Activated Receptor-γCoactivator 1 gene segment with the polymerase chain reaction, and the mutational sample are directed sequencing by automatic examine apparatus, six SNPs of PGC-1 gene. Using the SHEsis software (http://202.120.7.14/analysis/) to analyze haplotype of PGC-1. Result: 1. Three polymorphisms IVS2+52 C＞A, Gly482Ser(G＞A), Thr528Thr(G＞A) genotype frequencies and allelic frequencies were no significant difference between the Korean individuals and the Han nationality (P＞0.05); 2. In the Han nationality, three polymorphisms IVS2+52C＞A, Gly482Ser (G＞A), Thr528Thr (G＞A) genotype frequencies and allelic frequencies were no significant difference between group NGT and group T2DM (P＞0.05). 3. In the Korean individuals, two polymorphisms Gly482Ser (G＞A), Thr528Thr (G＞A) genotype freque- ncies and allelic frequencies were no significant difference between group NGT and group T2DM (P＞0.05). Genotype AA frequency of IVS2+52C＞A in group T2DM (21.59%) of the Korean individuals is higher than in group NGT (9.78%) (OR=2.207, 95%CI=0.948-5.139, P＜0.05). The A allelic frequence of IVS2+52C＞A in group NGT (27.72%) was higher than in group T2DM (38.64%), but no significant difference (P＞0.05). 4. There are four frequently haplotypes of PGC-1 gene IVS2+52C＞A, Gly482Ser (G＞A), Thr528Thr (G＞A) sites analyzed SHEsis software: AAA, AGG, CAA and CGG. Their distribution frequency in group of T2DM and NGT in The Korean individuals are 0.104 vs 0.125, 0.274 vs 0.155, 0.274 vs 0.293, 0.348 vs 0.427; and in The Han nationality are 0.113 vs 0.102, 0.241 vs 0.245, 0.283 vs 0.290, 0.363 vs 0.364. Among the total, the haplotyre AGG frequency is significant difference between T2DM and NGT in The Korean individuals (P=0.006522). 5. The study show: there were four familiar combination genotype, such as A, B, C and D; In the Korean individuals, the D combination genotype frequence of group NGT was higher than group T2DM 2.714 times, We considerd this combination genotype may be protecting for the Korean individuals. And the others were no significant difference between T2DM and NGT both the Korean individuals and the Han nationality (P＞0.05). 6. We found that one sample was CT heterozygous mutation of Ler577Ser PGC-1 gene in the Korean individuals (0.56%); but we not found the allele Ser74Leu and Asp475Asp of PGC-1 gene altered in The Korean individuals or the Han nationality (0%), to show that wild,type allele gene of Ser74 and Asp475 of PGC-1 are ascendancy gene. 7. In the Han nationality, people's BMI, TG, HDL-C and LDL-C in group T2DM with genotype CA were higher than in group NGT (P＜0.05); people's TG in group T2DM with genotype AA were higher than in group NGT (P＜0.05). In the Korean individuals, people's TG, HDL-C and LDL-C in group T2DM with genotype CA were higher than in group NGT (P＜0.05); people's TG and HDL-C in group T2DM with genotype AA were higher than in group NGT (P＜0.05); 8. PGC-1 IVS2+52C＞A, Gly482Ser (G＞A), Thr528Thr (G＞A) polymorphisms may have diversity with different area and Nationality.