Association between the -455T>C promoter polymorphism of the APOC3 gene and the metabolic syndrome in a multi-ethnic sample.
Association between the -455T>C promoter polymorphism of the APOC3 gene and the metabolic syndrome in a multi-ethnic sample.
复制标题
在多种族样本中，APOC3基因的-455T> C启动子多态性与代谢综合征之间的关联。
DOI：
10.1186/1471-2350-8-80
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发表时间：
2007-12-20
影响因子：
--
通讯作者：
Hegele RA
中科院分区：
文献类型：
--
作者：
Pollex RL;Ban MR;Young TK;Bjerregaard P;Anand SS;Yusuf S;Zinman B;Harris SB;Hanley AJ;Connelly PW;Huff MW;Hegele RA
APOC3 基因启动子中常见的多态性与高甘油三酯血症相关，并可能影响代谢综合征 (MetS) 的表型表达。位于 INSIG2 基因附近的 rs7566605 标记已被发现与肥胖相关，这使其也是 MetS 的潜在遗传决定因素。本研究的目的是检查 APOC3 -455T>C 和 INSIG2 rs7566605 多态性作为多种族样本中 MetS 的潜在遗传决定因素。对受试者进行 APOC3 -455T>C 和 INSIG2 rs7566605 多态性的基因分型，并根据是否存在 MetS（NCEP ATP III 和 IDF 定义）进行分类。总研究人群包括来自六个不同地理血统的 2675 名受试者（≥18 岁）。对于整个研究人群，MetS 的患病率为 22.6%（NCEP ATP III 定义）。 ≥1 个 APOC3 -455C 拷贝的携带者比非携带者更有可能患有 MetS（NCEP ATP III 定义）（携带者比值比 1.73，95% CI 1.40 至 2.14，根据年龄和研究组进行调整）。与野生型纯合子相比，这种关联的基础不仅与满足甘油三酯和高密度脂蛋白胆固醇标准的-455C携带者比例较高有关，而且与血压标准有关。血浆apo C-III浓度与APOC3 -455T>C基因型无关。 INSIG2 rs7566605 多态性与 MetS 或肥胖指标无关。对多个地理祖先样本的荟萃分析表明，APOC3 中的功能性 -455T>C 启动子多态性与 MetS 风险增加约 2 倍相关，而 INSIG2 rs7566605 多态性与 MetS 无关。
Common polymorphisms in the promoter of the APOC3 gene have been associated with hypertriglyceridemia and may impact on phenotypic expression of the metabolic syndrome (MetS). The rs7566605 marker, located near the INSIG2 gene, has been found to be associated with obesity, making it also a potential genetic determinant for MetS. The objective of this study is to examine the APOC3 -455T>C and the INSIG2 rs7566605 polymorphisms as potential genetic determinants for MetS in a multi-ethnic sample. Subjects were genotyped for both the APOC3 -455T>C and INSIG2 rs7566605 polymorphisms, and classified for the presence or absence of MetS (NCEP ATP III and IDF definitions). The total study population included 2675 subjects (≥18 years of age) from six different geographical ancestries. For the overall study population, the prevalence of MetS was 22.6% (NCEP ATP III definition). Carriers of ≥1 copy of APOC3 -455C were more likely to have MetS (NCEP ATP III definition) than noncarriers (carrier odds ratio 1.73, 95% CI 1.40 to 2.14, adjusting for age and study group). The basis of the association was related not only to a higher proportion of -455C carriers meeting the triglyceride and high-density lipoprotein cholesterol criteria, but also the blood pressure criteria compared with wild-type homozygotes. Plasma apo C-III concentrations were not associated with APOC3 -455T>C genotype. The INSIG2 rs7566605 polymorphism was not associated with MetS or measures of obesity. Meta-analysis of the sample of multiple geographic ancestries indicated that the functional -455T>C promoter polymorphism in APOC3 was associated with an approximately 2-fold increased risk of MetS, whereas the INSIG2 rs7566605 polymorphism was not associated with MetS.