Study On The Relationship Between The Susceptibility Gene Polymorphisms And Type 2 Diabetes In Hans In Shanghai Of China

Objective To evaluate the distribution of the PGC-1αThr394Thr (ACG＞ACA),Gly482Ser (GGT＞AGT), Thr612Met (ACG＞ATG) and IVS2+52C＞A polymorphismsin Han people of China, and to observe the association between the four singlenucleotide polymorphisms (SNP) of peroxisome proliferators-activated receptor-γcoactivator-1α(PGC-1α) gene and type 2 diabetes mellitus.Methods Four common SNPs of PGC-1αgene were genotyped with PCR-RFLP andthen analyzed with transmission-disequilibrium test (TDT) and sibtransmission-disequilibrium test (STDT) in 69 type 2 diabetes pedigrees (310individuals), and four SNPS combining haplotypes were calculated by Genehuntsoftware. Furthermore, we've performed case-control study to genotype Gly482Ser in156 type 2 diabetes and 111 normal glucose tolerance people without family history.Results There were no positive results in four variants in TDT-STDT analysis(P＞0.05). (2) There were no preferential transmission of any haplotype (3) TheGly482Ser exhibited a significant difference between the two groups. GA genotypecarriers were at increased risk for T2DM (OR), and there was significantly statisticaldifference in the allele frequency between case and control(P=0.046). (4) The subjectswith the GG genotype at position Gly482Ser had a higher HDL-C and lower LDL-Cand TG levels than those with GA+AA genotype in control group without familyhistory (P=0.043, P=0.046, P=0.037 respectively).Conclusion This study suggested that the PGC-1αgene might be implicated in thepathogenesis of type 2 diabetes. But the studied SNPs in PGC-1αgene mayn't be majorsusceptibility ones of type 2 diabetes mellitus in Han people of ShangHai. Objective To evaluate the distribution of the APM1 gene polymorphism-11377C＞G,+45T＞G and +276G＞T and its association with type 2 diabetes in Hanpeople of Shanghai region of China.Methods Three common SNPs of APM1 gene were genotyped with PCR-RFLP andthen analyzed with transmission-disequilibrium test (TDT) and sibtransmission-disequilibrium test (STDT) in 75 type 2 diabetes pedigrees (337individuals), and three SNPs combining haplotypes were calculated by Genehuntsoftware. Furthermore, the association of adiponectin gene polymorphisms withphysiological and biochemical charactors were also performed.Results There were no positive results in three variants in TDT-STDTanalysis(P＞0.05). (2)There were no preferential transmission of any haplotypes. (3) ForSNP-11377, ANOVA analysis showed, compared with the subjects with CC genotype,the subjects with GG had higher degree of BMI, WC and DBP, and t-test showed thatthe subjects with G allele had lower degree of HDL-C and FINS in the T2DM and IGTgroups. Similarly, the subjects with G allele had lower degree of FINS in the control. (4)For SNP45, the ANOVA analysis indicated the subjects with GG genotypes had higherBMI and lower level of FINS than those with TT genotypes in T2DM and IGT groups.(5) For SNP276, t-test manifested that the subjects with T allele had lower BMI thanthose with GG genotypes.Conclusion The three variants of APM1 gene were not linkage with type 2 diabetesin TDT-STDT analysis, and no sighnificant association of haplotypes with T2DM andIGT was detected in our study. But the studied SNPs in APM1 gene may affect thefunction of pancreaticβcell and contribute to the development of obesity.