ENPP1 K121Q 多态性与糖尿病患者的缺血性心脏病。

ENPP1 K121Q polymorphism and ischemic heart disease in diabetic patients.

机构信息

Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brasil.

出版信息

Arq Bras Cardiol. 2010 Feb;94(2):157-61, 168-73, 159-63. doi: 10.1590/s0066-782x2010000200005.

DOI:10.1590/s0066-782x2010000200005

PMID:20428609

Abstract

BACKGROUND

The ecto-nucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) gene is a candidate gene for insulin resistance. Insulin resistance is a major component of metabolic syndrome (MetS) and has been implicated in ischemic heart disease (IHD).

OBJECTIVE

To evaluate the association between the K121Q polymorphism of the ENPP1 gene and IHD in white patients with type 2 diabetes mellitus (DM).

METHODS

A cross-sectional study was performed in type 2 DM patients (n = 573, 50.6% males, age 59.5+/-10.4 years). IHD was defined by the presence of angina or myocardial infarction according to the Worth Health Organization cardiovascular questionnaire and/or compatible electrocardiographic (Minnesota Code), or perfusional abnormalities in myocardial scintigraphy. The K121Q polymorphism of ENPP1 gene was genotyped using PCR-based methods and restriction enzyme digestion.

RESULTS

IHD was present in 209 (36.5%) patients. The distribution of KK, KQ and QQ genotypes among patients with IHD was 60.8%, 34.4% and 4.8%, not different from the genotype distribution in the group without IHD (64%, 32.7% and 3.3%, P=0.574). No difference was found in the clinical and laboratory characteristics between the three genotypes, neither regarding the prevalence of Metabolic Syndrome.

CONCLUSION

No association was found between polymorphism K121A of ENPP1 gene and the presence of IHD.

摘要

背景

核苷酸焦磷酸酶/磷酸二酯酶 1（ENPP1）基因是胰岛素抵抗的候选基因。胰岛素抵抗是代谢综合征（MetS）的主要组成部分，并且与缺血性心脏病（IHD）有关。

目的

评估 2 型糖尿病（DM）白种患者中 ENPP1 基因 K121Q 多态性与 IHD 的关系。

方法

进行了一项横断面研究，纳入了 573 例 2 型 DM 患者（50.6%为男性，年龄 59.5+/-10.4 岁）。IHD 根据世界卫生组织心血管问卷和/或符合明尼苏达州代码的心绞痛或心肌梗死以及心肌闪烁扫描中的灌注异常定义。使用基于 PCR 的方法和限制性内切酶消化对 ENPP1 基因的 K121Q 多态性进行基因分型。

结果

209 例（36.5%）患者存在 IHD。在 IHD 患者中，KK、KQ 和 QQ 基因型的分布分别为 60.8%、34.4%和 4.8%，与无 IHD 组的基因型分布（64%、32.7%和 3.3%）无差异（P=0.574）。在三种基因型之间，无论代谢综合征的流行情况如何，临床和实验室特征均无差异。