CAJ | 학술논문

目的观察脂联素(APN)启动子基因单核苷酸多态性(SNP)频率与2型糖尿病(T2DM)及其合并症间的相关性,探讨脂联素基因(aPM1)突变是否是T2DM遗传的危险因素.并确立一种高效、准确、经济的检测APN基因实用筛查方法,供临床检测应用.方法对单纯T2DM49例(男28例,女21例)、T2DM合并高血压(T2DM-HP)90例(男51例,女39例)、T2DM合并冠心病(T2DM-CHD)33例(男15例,女18例)、T2DM合并肾病(T2DM-NE)41例(男18例,女23例)患者和健康对照组58名(男30名,女28名),测定空腹血清生化指标.采用变性高效液相色谱(DHPLC)技术,筛选APN基因多态性位点.结果在APN基因(aPM1)启动子区扩增的片段与基因库中登陆的APN GeneID:9370序列相比,存在点突变(-11377G/C).GG、GC、CC基因频率在T2DM组和对照组分别为:5.16%、42.25%、52.58%和3.40%、32.75%、63.85%.T2DM患者aPM1 的SNP-11377位点G等位基因频率明显高于健康对照组(x2=6.818,OR=0.55,P=0.033).从T2DM基因型分组临床资料比较可见,-11377G/C基因型与T2DM患者的收缩压(P=0.035)、体重指数(BMI)(P=0.010)、腹围(P=0.013)和腰臀比(P=0.015)显著相关.通过对试验条件优化,在采用DHPLC技术检测APN基因多态性位点发现,本试验检测柱温以60℃最佳.结论 aPM1启动子区SNP-11377C/G多态性与T2DM及并发症的发生和T2DM患者体型肥胖形成机制有相关性,提示SNP.11377C/G多态性可能增加T2DM的遗传风险.
목적 관찰지련소(APN)계동자기인단핵감산다태성(SNP)빈솔여2형당뇨병(T2DM)급기합병증간적상관성,탐토지련소기인(aPM1)돌변시부시T2DM유전적위험인소.병학립일충고효、준학、경제적검측APN기인실용사사방법,공림상검측응용.방법 대단순T2DM49례(남28례,녀21례)、T2DM합병고혈압(T2DM-HP)90례(남51례,녀39례)、T2DM합병관심병(T2DM-CHD)33례(남15례,녀18례)、T2DM합병신병(T2DM-NE)41례(남18례,녀23례)환자화건강대조조58명(남30명,녀28명),측정공복혈청생화지표.채용변성고효액상색보(DHPLC)기술,사선APN기인다태성위점.결과 재APN기인(aPM1)계동자구확증적편단여기인고중등륙적APN GeneID:9370서렬상비,존재점돌변(-11377G/C).GG、GC、CC기인빈솔재T2DM조화대조조분별위:5.16%、42.25%、52.58%화3.40%、32.75%、63.85%.T2DM환자aPM1 적SNP-11377위점G등위기인빈솔명현고우건강대조조(x2=6.818,OR=0.55,P=0.033).종T2DM기인형분조림상자료비교가견,-11377G/C기인형여T2DM환자적수축압(P=0.035)、체중지수(BMI)(P=0.010)、복위(P=0.013)화요둔비(P=0.015)현저상관.통과대시험조건우화,재채용DHPLC기술검측APN기인다태성위점발현,본시험검측주온이60℃최가.결론 aPM1계동자구SNP-11377C/G다태성여T2DM급병발증적발생화T2DM환자체형비반형성궤제유상관성,제시SNP.11377C/G다태성가능증가T2DM적유전풍험.
objective To explore the correlation of single nucleotide polymorphism (SNP) frequency of adiponectin(APN)in patients with type Ⅱ diabetes(T2DM)and its complications,investigate whether the SNP is a risk factor of inheritance of T2DM,and to set up a highly efficient.accurate, economical and practical screening assay to detect the mutation of APN in clinical practice.Methods According to the diagnostic criteria of T2DM,patients with coronary heart disease(CHD),hypertension (HP),and diabetic nephropathy(NE)were recruited into this study.In simple,12DM group,T2DM-HP, T2DM-CHD.T2DM-NE and the control group.serum biochemistry items are measured.The technique of denaturing high-performance liquid chromatography(DHPLC)was used to detect SNPs of ANP gene.Results After all fragments amplified in the reglen of promoter of APN gene were compared with APN GeneID:9370 sequence recorded in GenBank,point mutation has been identified(-11377G/C).The frequency of genotypes of GG,GC,and CC are 5.16%,42.25%,52.58%and 3.4%.32.75%,63.85%,respectively in the groups of T2DM and control.The frequency of G allele was related to the incidence of T2DM,and is a risk factor of T2DM.The relative risk of GC to CC in developing T2DM is much high than that in the control group (OR=0.55).By comparing the clinical data of different groups of genotype in T2DM,it was observed that the genotype affected systolic blood pressure,BMI,abdominal circumference, and waist-buttock ratio(P=0.015).After optimizing the experimental conditions.it was found column temperature 6 0℃ was the best when using DHPLC technology to estimate SNP of APN gene.Conclusion SNP (-11377G/C) of APN gene G allele has a definite correlation with complications of hypertension in T2DM patients,and may contribute to the genetic risk for type 2 diabetes.