| OBJECTIVE Type 2 diabetes mellitus (T2DM) is a complex disease characterized by elevated blood glucose level that results from insulin resistance and deficiency inβcell secretion. The genetic factor plays the key role in the pathogenesis of T2DM. Identification of susceptibility genes of T2DM would have important implication for primary prevention of T2DM and screening of high-risk individuals.The PPAR-y2 gene is an important candidate gene of T2DM. The purpose of this paper is to investigate if the polymorphisms are associated with T2DM in Korean and Han ethnic nationality of Yanbian area in China.METHODS A total of 453 case-controls (242 T2DM patients:149 Han and 93 Korean; 211 control-group people:108 Han and 103 Korean) were recruited. The Prol2Ala,Pro113Gln,Gln438Gln,Ser457Ser,C161T,Leu481 Leu six SNPs were determined by polymerase chain reaction-single strand conformational polymorphism (PCR-SSCP) and DNA sequencing.RESULTS 1. Genotypes and allele frequencies of case and control analysis results. PPAR-y 2 gene Prol2A!a and C161T two SNPs were detected in 453 cases of Korean and Han nationality population in Yanbian area. Pro113Gln, Gln438Gln, Ser457Ser, Leu481Leu polymorphisms were not found. Pro12Ala polymorphism Ala allele frequency was no difference between Korean and Han (2.3%and 2.9%, P=0.01), Ala allele frequency was no difference (2.5%and 2.6%. P=0.90) between T2DM patients and control group. Genotype frequency in case and control was no significant difference (P>0.05) between the Korean and Han groups. C161T polymorphism genotype and allele frequency in case and control groups showed no significant difference (χ2=2.135, P=0.344;χ2=0.650, P=0.420). However, further analysis by ethnic group found in the Han population of T2DM T allele frequency was higher than the Korean population (22.5%and 15.1%, P= 0.045), higher than the Scottish population (11.7%), Australia (16.2%) close to the French population (22.5%); but the genotype frequency was no difference between Korean and Chinese (P>0.05). In the control group Han and Korean C161T genotype and allele frequency showed no significant difference (P>0.05).2. Combined genotype and haplotype analysis. The ProPro-CC genotype combination is the most common, T2DM patients with a frequency of 62.8%, the control group frequency of 66.3%, other combinations of frequency less. Pro-C haplotype is the most common, followed by the Pro-T, other haplotype combination frequency lower than 0.03 did not analyze. The results showed that Pro-T haplotype is ethnic different between Korean and Han nationality, the Han in the control was significantly higher than the Korean (0.199V0.127,χ2=3.898,P=0.048); there was significant difference (0.214V0.124,χ2=6.287, P=0.012, OR=1.926) between the Chinese and Korean in the case group.3. Associated clinical data analysis. All cases and control clinical characteristics of the Prol2Ala polymorphism were no difference (P>0.05). The C161T polymorphism and waist circumference, HDL-C Clinical index was correlated between the Han population case and control (P<0.05), but not in the Korean population (P>0.05). The waist circumference were significantly different between ProPro-CC genotype combination and ProPro-T carrier (TT/TC) genotype combination (P=0.025). ProPro-CC genotype combination in patients'waist circumference was greater than the ProPro-T carrier patients.CONCLUSION 1. The results suggest that PPAR-γ2 gene in ProPro-T carrier polymorphism was associated with obesity hereditary susceptibility in Korean and Han of Yanbian area T2DM patients.2. PPAR-y2 gene 12Ala and 161T polymorphism showed Ethnic differences. Pro-T haplotype showed national differences.3.12Ala and 161T polymorphism of PPAR-y2 gene was not found to relate to the hereditary susceptibility in T2DM group.4. Pro113GIn, Gln438Gln, Ser457Ser, Leu481Leu alleles sites of PPAR-y2 gene may not belong to Korean and Han populations'polymorphism in Yanbian area. |
PDF Full Text Request