Miller Michael, Rhyne Jeffrey, Chen Hegang, Beach Valerie, Ericson Richard, Luthra Kalpana, Dwivedi Manjari, Misra Anoop
University of Maryland Hospital and Veterans Affairs Medical Center, Baltimore, Maryland, USA.
Arch Med Res. 2007 May;38(4):444-51. doi: 10.1016/j.arcmed.2006.10.013. Epub 2007 Mar 26.
Despite the growing epidemic of the metabolic syndrome (MetS), few studies have evaluated genetic polymorphisms associated with the MetS phenotype. One candidate, APOC3, modulates lipid and lipoprotein metabolism and the promoter polymorphisms C-482T/T-455C are associated with loss of insulin downregulation.
One hundred twenty two consecutive MetS cases were matched by age, sex and race in a 1:1 case-control design to evaluate the prevalence of common polymorphisms in the following candidate genes: APOC3, APOE, B3AR, FABP2, GNB3, LPL, and PPARalpha and PPARgamma.
Compared to controls, MetS subjects exhibited a greater prevalence of APOC3 promoter polymorphisms. Specifically, the frequency of the variant C-482T and T-455C alleles was 70.5 and 81.9% of cases compared to 43.4 and 54.1% in controls, respectively (p <0.0001). Overall, APOC3 promoter variants were associated with a greater likelihood of MetS compared to wild type [C-482T (OR: 4.3; 95% CI: 2.2, 8.6 [p <0.0001]), T-455C (OR: 3.6; 95% CI: 2.0, 6.7 [p <0.0001])]. No material differences were identified between the other genetic variants tested and prevalence of MetS.
These data, therefore, suggest that the APOC3 promoter polymorphisms C-482T and T-455C are associated with the MetS.
尽管代谢综合征（MetS）的流行日益严重，但很少有研究评估与MetS表型相关的基因多态性。一个候选基因APOC3可调节脂质和脂蛋白代谢，其启动子多态性C-482T/T-455C与胰岛素下调功能丧失有关。
采用1:1病例对照设计，按年龄、性别和种族对122例连续的MetS病例进行匹配，以评估以下候选基因中常见多态性的患病率：APOC3、APOE、B3AR、FABP2、GNB3、LPL以及PPARα和PPARγ。
与对照组相比，MetS患者中APOC3启动子多态性的患病率更高。具体而言，病例组中变异的C-482T和T-455C等位基因频率分别为70.5%和81.9%，而对照组分别为43.4%和54.1%（p<0.0001）。总体而言，与野生型相比，APOC3启动子变异与MetS的发生可能性更大相关[C-482T（比值比：4.3；95%置信区间：2.2，8.6 [p<0.0001]），T-455C（比值比：3.6；95%置信区间：2.
