ABSTRACT
OBJECTIVE:To explore the association between the mitochondrial DNA(mtDNA)3537A/G,5351A/G variant and type 2diabetes mellitus(T2DM)in northem Chinese population.METHODS:The subjects including 614 patients with T2DM in Dalian City,61 of them were collected from family survey,497 of them were collected from Department of Endocrine,Dalian Municipal Central Hospital,and the remained 56 were selected from diverging T2DM patients in Dalian City.Additional 344 cases with normal carbohydrate toierance were served as controls.The mtDNA 3537A/G.5351A/G variants in 614 patients with T2DM and 334 healthy control subjects were examined.By sequencing the mtDNA in 24 cases and 26 controls,2 candidate SNPs in mtDNA were determined,and then genotyping was carried out by using PCR restriction fragment length polymorphism(PCR-RFLP)analysis.RESULTS:The frequency of mtDNA A3537G and A5351G mutation was 2.0%and 2.6% in T2DM patients,respectively,which was 2.1%and 4.2% in the control group.No significant difference had been observed between case and control(P＞0.05).After stratifying by body mass index and blood pressure,we found that the frequency of A5351 G in obesity patients with T2DM was 1.61%,and in obesity control was 15.38%,which had significant difference(P_(Fisher)=0.02,OR=2.76),however,A3537G stili showed no significant difference in all groups(P＞0.05).CONCLUSION:5351A/G in mtDNA ND2 gene may be a variance associated with T2DM in northem Chinese.