中华医学遗传学杂志
中華醫學遺傳學雜誌
중화의학유전학잡지
CHINESE JOURNAL OF MEDICAL GENETICS
2010年
5期
550-553
,共4页
宋洁%刘圆圆%龙洋%田浩明%刘瑞%李秀钧%陈涛%张翔迅%喻红玲%任艳
宋潔%劉圓圓%龍洋%田浩明%劉瑞%李秀鈞%陳濤%張翔迅%喻紅玲%任豔
송길%류원원%룡양%전호명%류서%리수균%진도%장상신%유홍령%임염
PPARGC1A基因%Thr394Thr多态性%2型糖尿病%胰岛素抵抗
PPARGC1A基因%Thr394Thr多態性%2型糖尿病%胰島素牴抗
PPARGC1A기인%Thr394Thr다태성%2형당뇨병%이도소저항
PPARGC1A gene%Thr393Thr polymorphism%type 2 diabetes%insulin resistance
目的 了解中国成都地区汉族人群过氧化物酶体增殖物激活受体γ辅助激活因子-1α基因(peroxisome proliferator-activated receptor gamma,coactivator 1 alpha,PPARGC1A;又名PGC-1α)Thr394Thr位核苷酸G/A的基因型分布,探讨该多态性与2型糖尿病(type 2 diabetes mellitus,T2DM)、胰岛素抵抗及其他代谢异常的关系.方法 应用聚合酶链反应-限制性片段长度多态性技术检测151例无亲缘关系的T2DM患者和156名糖耐量正常对照者PPARGC1A基因Thr394Thr位核苷酸G/A多态性.所有研究对象均测定血糖、胰岛素、血脂,测量身高、体重、腰围、血压.结果 与正常对照组相比,T2DM组的体重指数、腰围、血压、甘油三酯水平均显著增高(P＜0.05),而高密度脂蛋白胆固醇(high density lipoprotein-cholesterol,HDL-C)水平显著降低(P＜0.05).A等位基因的频率在T2DM及正常对照组分别为22.5%、18.6%,AG基因型频率在两组分别为43.7%、37.2%,差异无统计学意义.在T2DM组中,AA+AG基因型的空腹胰岛素、稳态模型评估法胰岛素抵抗指数(homeostasis model aseessment-insulin resistance,HOMA-IR)及腰围明显高于GG基因型,HDL-C显著低于GG基因型(P＜0.05).无论T2DM和正常对照,A等位基因携带者HOMA-IR明显高于GG者.结论 PPARGC1A基因Thr394Thr位核苷酸G/A多态性与胰岛素抵抗存在明显相关,并可能与T2DM患者中心性肥胖及低HDL-C水平相关,其与T2DM发病的关系有待进一步研究.
目的 瞭解中國成都地區漢族人群過氧化物酶體增殖物激活受體γ輔助激活因子-1α基因(peroxisome proliferator-activated receptor gamma,coactivator 1 alpha,PPARGC1A;又名PGC-1α)Thr394Thr位覈苷痠G/A的基因型分佈,探討該多態性與2型糖尿病(type 2 diabetes mellitus,T2DM)、胰島素牴抗及其他代謝異常的關繫.方法 應用聚閤酶鏈反應-限製性片段長度多態性技術檢測151例無親緣關繫的T2DM患者和156名糖耐量正常對照者PPARGC1A基因Thr394Thr位覈苷痠G/A多態性.所有研究對象均測定血糖、胰島素、血脂,測量身高、體重、腰圍、血壓.結果 與正常對照組相比,T2DM組的體重指數、腰圍、血壓、甘油三酯水平均顯著增高(P＜0.05),而高密度脂蛋白膽固醇(high density lipoprotein-cholesterol,HDL-C)水平顯著降低(P＜0.05).A等位基因的頻率在T2DM及正常對照組分彆為22.5%、18.6%,AG基因型頻率在兩組分彆為43.7%、37.2%,差異無統計學意義.在T2DM組中,AA+AG基因型的空腹胰島素、穩態模型評估法胰島素牴抗指數(homeostasis model aseessment-insulin resistance,HOMA-IR)及腰圍明顯高于GG基因型,HDL-C顯著低于GG基因型(P＜0.05).無論T2DM和正常對照,A等位基因攜帶者HOMA-IR明顯高于GG者.結論 PPARGC1A基因Thr394Thr位覈苷痠G/A多態性與胰島素牴抗存在明顯相關,併可能與T2DM患者中心性肥胖及低HDL-C水平相關,其與T2DM髮病的關繫有待進一步研究.
목적 료해중국성도지구한족인군과양화물매체증식물격활수체γ보조격활인자-1α기인(peroxisome proliferator-activated receptor gamma,coactivator 1 alpha,PPARGC1A;우명PGC-1α)Thr394Thr위핵감산G/A적기인형분포,탐토해다태성여2형당뇨병(type 2 diabetes mellitus,T2DM)、이도소저항급기타대사이상적관계.방법 응용취합매련반응-한제성편단장도다태성기술검측151례무친연관계적T2DM환자화156명당내량정상대조자PPARGC1A기인Thr394Thr위핵감산G/A다태성.소유연구대상균측정혈당、이도소、혈지,측량신고、체중、요위、혈압.결과 여정상대조조상비,T2DM조적체중지수、요위、혈압、감유삼지수평균현저증고(P＜0.05),이고밀도지단백담고순(high density lipoprotein-cholesterol,HDL-C)수평현저강저(P＜0.05).A등위기인적빈솔재T2DM급정상대조조분별위22.5%、18.6%,AG기인형빈솔재량조분별위43.7%、37.2%,차이무통계학의의.재T2DM조중,AA+AG기인형적공복이도소、은태모형평고법이도소저항지수(homeostasis model aseessment-insulin resistance,HOMA-IR)급요위명현고우GG기인형,HDL-C현저저우GG기인형(P＜0.05).무론T2DM화정상대조,A등위기인휴대자HOMA-IR명현고우GG자.결론 PPARGC1A기인Thr394Thr위핵감산G/A다태성여이도소저항존재명현상관,병가능여T2DM환자중심성비반급저HDL-C수평상관,기여T2DM발병적관계유대진일보연구.
Objective To examine the association of the Thr394Thr polymorphism of PPARGC1A gene with type 2 diabetes (T2DM), insulin resistance (IR) and other metabolic disorders in a Chinese population. Methods Three hundred and seven subjects including 151 T2DM patients and 156 normal glucose tolerant controls (NC) were enrolled in this study. The Thr394Thr G/A polymorphism was genotyped using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP).Glucose, insulin, lipids levels were determined in all subjects. Body mass index (BMI), waist circumferences, index of homeostasis model assessment-insulin resistance (HOMA-IR) and blood pressure were also measured. Results The diabetic subjects had higher levels of BMI, waist circumferences, blood systolic pressure, triglycerides and lower levels of high density lipoprotein-cholesterol(HDL-C) compared with those of control subjects (P＜0. 05). About 43.7% (66/151) of the T2DM subjects had the AG genotype, while 37.2% (58/156) in the NC group. The frequency of the A allele was 0. 225 in T2DM, and 0. 186 in the NC subjects. There were no significant differences either in genotype or allelic distribution of G/A polymorphism between the two groups. In the T2DM group, subjects with AA and GA genotypes had significantly higher levels of HOMA-IR, waist circumferences and lower levels of HDL-C (P＜0.05) than those carrying GG genotype. HOMA-IR in subjects with AA and AG were significantly higher than those with GG genotype in both groups. Conclusion The A allele of the Thr394Thr (G→A) polymorphism of the PPARGC1A gene was associated with insulin resistance, and may be related to central obesity and decreased HDL-C levels in Chinese population. The relationship between this polymorphism and T2DM needs further investigation.
