PGC-1α基因Gly482Ser多态性与2型糖尿病前期的相关性研究  

Association of PGC-1α gene polymorphism with impaired glucose regulation

作　　者：邓德耀[1] 袁文丽[1] 冯倩[1] 刘春林[1] 赵东岩[1] 李显丽[2] 高宗鹰[1] 徐红云[1] 方芳[1] 李奕平[2] 

机构地区：[1]云南省第二人民医院检验科,云南昆明650021 [2]云南省第二人民医院内分泌科,云南昆明650021

出　　处：《中国实验诊断学》2012年第11期2047-2052,共6页Chinese Journal of Laboratory Diagnosis

基　　金：云南省教育厅重点科研课题基金(09c0306)

摘　　要：目的了解云南省昆明地区PGC-1α基因Gly482Ser多态性与2型糖尿病前期的相关性。方法采集361例糖尿病前期人群(IGR)、430例2型糖尿病患者(T2DM)和446例OGTT正常的健康志愿者(NGT)的血样,提取基因组DNA。应用高分辨率熔解曲线分析方法检测PGC-1α基因Gly482Ser基因型,观察三组人群中基因型和等位基因的分布情况,同时分析糖尿病前期不同基因型人群的临床变量的差异性。结果 (1)PGC-1α基因Gly482Ser AA基因型及G等位基因在T2DM组中的频率分别为0.209和0.587,在IGR组中为0.152和0.640,差异均无统计学意义(P>0.05);A等位基因在T2DM组中为0.413,在IGR组中为0.360,两组之间差异具有显著性意义(P=0.032)。(2)IGR组PGC-1α基因482位点GG基因型和GA+AA基因型的表型间的BMI、TC、HDL-C和LDL-C比较差异无统计学意义(P>0.05)。IGR组空腹血糖受损人群(IFG)GG基因型和GA+AA基因型的临床变量差异均无统计学意义(P>0.05)。在糖耐量受损(IGT)人群,含A的基因型(GA+AA)表现出更高的餐后血糖(PBG)水平,且具有统计学差异(P=0.027),而BMI、TC、HDL-C和LDL-C水平在GA基因型和GA+AA基因型之间均无显著性差异(P>0.05)。结论云南省昆明地区PGC-1α基因Gly482Ser多态性与糖尿病前期密切相关,可以推测含有A等位基因的糖尿病前期人群更易合并餐后高血糖,更易进展为T2DM。Objective To investigate the association of PGC-1α gene G1y482Ser single nucleotide polymorphism with impaired glucose regulation in Kunming,Yunnan province.Methods 361 people with impaired glucose regulation（IGR）,430 patients with type 2 diabetes mellitus（T2DM） and 446 normal volunteers（NGT） were recruited in the study.Their blood specimens were collected to extract the genomic DNA.PGC-1α gene Gly482Ser（GA） types were identified by HRM and DNA direct sequencing.The distribution of genotype and allele in three groups were investigated.We also observed the association of clinic phenotype with two subsets in impaired glucose regulation group.Results（1）This study indicated that AA genotype and G allele frequencies of PGC-1α gene GIy482Ser variant were 0.209,0.587 in T2DM group and 0.152,0.640 in IGR group respectively（P0.05）.A allele frequencies of GIy482Ser polymorphisms show significant difference between two groups respectively（P=0.032）.（2）Among 361 people with impaired glucose regulation,there were no significant difference between the clinic phenotype of BMI,TC,HDL-C,LDL-C and the genotype（P0.05）.This study only suggested that people carried with A allele had a higher postprandial blood sugar level than those with G allele in IGT group.No significant difference in above-mentioned clinic phenotype was observed either in IFG or in IGT subset.Conclusion PGC-1α gene G1y482Ser single nucleotide polymorphism is associated with impaired glucose regulation in Kunming,Yunnan province.These results further suggest people carried with A allele in IGR group maybe have a higher postprandial blood sugar level and higher probability of T2DM.

关 键 词：PGC-1Α基因 多态性 糖尿病前期 2型糖尿病 高分辨率熔解曲线 

分 类 号：R587.1[医药卫生—内分泌]