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脂蛋白脂肪酶基因的S447X变体与土耳其人的代谢综合征及血脂水平相关。

The S447X variant of lipoprotein lipase gene is associated with metabolic syndrome and lipid levels among Turks.

作者信息

Komurcu-Bayrak Evrim, Onat Altan, Poda Mehves, Humphries Steve E, Acharya Jayshree, Hergenc Gülay, Coban Neslihan, Can Gunay, Erginel-Unaltuna Nihan

机构信息

Department of Genetics, Institute for Experimental Medical Research, Istanbul University, Istanbul, Turkey.

出版信息

Clin Chim Acta. 2007 Aug;383(1-2):110-5. doi: 10.1016/j.cca.2007.05.007. Epub 2007 May 18.

Abstract

BACKGROUND

We evaluated the relationship of the lipoprotein lipase (LPL) S447X variant with serum lipid levels and the metabolic syndrome (MS) in the Turkish Adult Risk Factor (TARF) study. This is the first study examining this LPL variant in the Turkish population.

METHODS

The sample comprised 1586 Turkish adults. Genotyping was performed using the Taqman allelic discrimination assay.

RESULTS

The X447 allele frequency was 0.11 (95% CI: 0.10-0.12). X447 allele carriers had significantly higher levels of HDL-C, LDL-C and total cholesterol; and lower fasting glucose, when compared with the SS genotype in females. In men, no significant association with any parameters was seen. The genotypic impact of the S447X variant on lipid levels appears to be modulated by environmental factors, such as cigarette smoking in women. Logistic regression analysis demonstrated a significantly reduced likelihood for metabolic syndrome in female X447 allele carriers (p=0.04), after adjustment for age, cigarette smoking, alcohol usage and physical activity grade.

CONCLUSIONS

In especially Turkish women, compared to non-carriers, carriers of the LPL X447 allele have higher levels of HDL-C, LDL-C and total cholesterol, and show a degree of protection against developing the metabolic syndrome.

摘要

背景

在土耳其成人风险因素(TARF)研究中,我们评估了脂蛋白脂肪酶(LPL)S447X变异与血脂水平及代谢综合征(MS)之间的关系。这是首次在土耳其人群中研究该LPL变异。

方法

样本包括1586名土耳其成年人。采用Taqman等位基因鉴别分析法进行基因分型。

结果

X447等位基因频率为0.11(95%置信区间:0.10 - 0.12)。与女性SS基因型相比,X447等位基因携带者的高密度脂蛋白胆固醇(HDL-C)、低密度脂蛋白胆固醇(LDL-C)和总胆固醇水平显著更高;空腹血糖更低。在男性中,未发现与任何参数有显著关联。S447X变异对血脂水平的基因型影响似乎受环境因素调节,如女性吸烟。逻辑回归分析表明,在调整年龄、吸烟、饮酒和身体活动等级后,女性X447等位基因携带者患代谢综合征的可能性显著降低(p = 0.04)。

结论

特别是在土耳其女性中,与非携带者相比,LPL X447等位基因携带者的HDL-C、LDL-C和总胆固醇水平更高,并显示出一定程度的预防代谢综合征发生的作用。

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