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NLRP3 基因变异与中国汉族 2 型糖尿病患者的胰岛素抵抗相关。

Variants of NLRP3 gene are associated with insulin resistance in Chinese Han population with type-2 diabetes.

机构信息

Department of Endocrinology, Xiangya Hospital, Central South University, 87 Xiangya Road, Changsha 410008, Hunan, China.

出版信息

Gene. 2013 Nov 1;530(1):151-4. doi: 10.1016/j.gene.2013.07.082. Epub 2013 Aug 22.

Abstract

AIMS

Nod like receptor pyrin domain containing 3 (NLRP3) is the best characterized member of nod like receptor family. Recent studies suggest that NLRP3 plays a crucial role in the pathogenesis of type-2 diabetes (T2DM), and variants in NLRP3 affect its mRNA stability and expression. Therefore, we hypothesize that the variants in NLRP3 gene may contribute to T2DM susceptibility. The aim of this study is to evaluate the association of NLRP3 SNPs with T2DM in Chinese Han patients.

METHODS

Two common variants in NLRP3 gene, rs10754558 and rs4612666, were detected using the polymerase chain reaction-restriction fragment length polymorphism procedure in 952 unrelated T2DM patients and 871 healthy controls. All participants were unrelated Chinese Hans.

RESULTS

The GG genotype and G allele frequencies of rs10754558 were significantly higher in T2DM patients than those in controls (for GG genotype, 19.6% vs. 14.5%, p=0.019; for G allele, 43.9% vs. 39.8%, p=0.013). The GG genotype of rs10754558 was significantly associated with higher LDL-C levels and more prone to insulin resistance, as evaluated by HOMA-IR or QUICK indexes.

CONCLUSIONS

The variant (rs10754558) in NLRP3 is related to insulin resistance and increased risk of T2DM in Chinese Han population.

摘要

目的

核苷酸结合寡聚化结构域样受体热蛋白结构域包含 3(NLRP3)是核苷酸结合寡聚化结构域样受体家族中研究最为透彻的成员。最近的研究表明,NLRP3 在 2 型糖尿病(T2DM)的发病机制中起着至关重要的作用,并且 NLRP3 中的变异会影响其 mRNA 稳定性和表达。因此,我们假设 NLRP3 基因中的变异可能导致 T2DM 的易感性。本研究旨在评估 NLRP3 基因的 SNP 与中国汉族 T2DM 患者之间的相关性。

方法

采用聚合酶链反应-限制性片段长度多态性方法检测 NLRP3 基因中的两个常见变异 rs10754558 和 rs4612666,共纳入 952 例无关的 T2DM 患者和 871 例健康对照者。所有参与者均为无关的汉族人。

结果

rs10754558 的 GG 基因型和 G 等位基因频率在 T2DM 患者中明显高于对照组(GG 基因型:19.6%比 14.5%,p=0.019;G 等位基因:43.9%比 39.8%,p=0.013)。rs10754558 的 GG 基因型与 LDL-C 水平升高和胰岛素抵抗(通过 HOMA-IR 或 QUICK 指数评估)显著相关。

结论

NLRP3 中的变异(rs10754558)与中国汉族人群的胰岛素抵抗和 T2DM 风险增加有关。

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