脂肪酸去饱和酶 1 多态性与中国人冠心病的发生相关。
Fatty acid desaturase 1 polymorphisms are associated with coronary heart disease in a Chinese population.
机构信息
Department of Epidemiology and Biostatistics, Key Laboratory of Modern Toxicology of Ministry of Education, School of Public Health, Nanjing Medical University, Nanjing, Jiangsu 210029, China.
出版信息
Chin Med J (Engl). 2012 Mar;125(5):801-6.
BACKGROUND
A recent genome-wide association study in Caucasians revealed that three loci (rs174547 in fatty acid desaturase 1 (FADS1), rs2338104 near mevalonate kinase/methylmalonic aciduria, cobalamin deficiency, cblB type (MVK/MMAB) and rs10468017 near hepatic lipase (LIPC)) influence the plasma concentrations of high-density lipoprotein-cholesterol (HDL-C) and triglycerides (TG). However, there are few reports on the associations between these polymorphisms and plasma lipid concentrations in Chinese individuals. This study aimed to evaluate the associations between these three polymorphisms with HDL-C and TG concentrations, as well as coronary heart disease (CHD) susceptibility in Chinese individuals.
METHODS
We conducted a population-based case-control study in Chinese individuals to evaluate the associations between these three polymorphisms and HDL-C and TG concentrations, and also evaluated their associations with susceptibility to CHD. Genotypes were determined using polymerase chain reaction-restriction fragment length polymorphism assays and TaqMan genotyping assays.
RESULTS
We found significant differences in TG and HDL-C concentrations among the TT, TC and CC genotypes of FADS1 rs174547 (P=0.017 and 0.003, respectively, multiple linear regression). The CC variant of rs174547 was significantly associated with hyperlipidemia compared with the TT variant (adjusted odds ratio (OR)=1.71, 95% confidence intervals (CI): 1.16-2.54). The FADS1 rs174547 CC variant was also associated with significantly increased CHD risk compared with the TT and TC variant (adjusted OR=1.53, 95%CI: 1.01-2.31), and the effect was more evident among nonsmokers and females. The polymorphisms rs2338104 and rs10468017 did not significantly influence HDL-C or TG concentrations in this Chinese population.
CONCLUSION
rs174547 in FADS1 may contribute to the susceptibility of CHD by altering HDL-C and TG levels in Chinese individuals.
背景
最近一项在白种人中进行的全基因组关联研究表明，三个基因座（脂肪酸去饱和酶 1（FADS1）中的 rs174547、甲羟戊酸激酶/甲基丙二酸尿症、钴胺素缺乏、cblB 型（MVK/MMAB）附近的 rs2338104 和肝脂肪酶（LIPC）附近的 rs10468017）影响高密度脂蛋白胆固醇（HDL-C）和甘油三酯（TG）的血浆浓度。然而，关于这些多态性与中国人群血浆脂质浓度之间的关联的报道很少。本研究旨在评估这三个多态性与中国人群中 HDL-C 和 TG 浓度以及冠心病（CHD）易感性之间的关系。
方法
我们在中国人群中进行了一项基于人群的病例对照研究，以评估这三个多态性与 HDL-C 和 TG 浓度之间的关系，并评估它们与 CHD 易感性的关系。使用聚合酶链反应-限制性片段长度多态性分析和 TaqMan 基因分型分析来确定基因型。
结果
我们发现 FADS1 rs174547 的 TT、TC 和 CC 基因型之间的 TG 和 HDL-C 浓度存在显著差异（P=0.017 和 0.003，多重线性回归）。与 TT 变异相比，rs174547 的 CC 变异与高脂血症显著相关（调整后的优势比（OR）=1.71，95%置信区间（CI）：1.16-2.54）。与 TT 和 TC 变异相比，FADS1 rs174547 的 CC 变异也与 CHD 风险显著增加相关（调整后的 OR=1.53，95%CI：1.01-2.31），且在不吸烟者和女性中更为明显。在这个中国人群中，rs2338104 和 rs10468017 多态性并不显著影响 HDL-C 或 TG 浓度。
结论
FADS1 中的 rs174547 可能通过改变中国人群的 HDL-C 和 TG 水平来导致 CHD 的易感性。
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