Apolymorphism of HMGA1 is associated with increased risk of metabolic syndrome and related components
Apolymorphism of HMGA1 is associated with increased risk of metabolic syndrome and related components
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DOI：
10.1038/srep01491
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发表时间：
2013-03-20
影响因子：
4.6
通讯作者：
Brunetti, Antonio
中科院分区：
文献类型：
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作者：
Chiefari, Eusebio;Tanyolac, Sinan;Brunetti, Antonio
代谢综合征 (MetS) 是一种常见疾病，全身胰岛素抵抗与 2 型糖尿病 (T2D) 和心血管疾病的风险增加相关。识别影响 MetS 风险和进展的遗传特征非常重要。我们和其他人之前报道了一种功能性 HMGA1 基因变异 rs146052672，它易患 T2D。在这里，我们研究了 rs146052672 变体与 MetS 和相关成分的关联。在意大利和土耳其的一项病例对照研究中，HMGA1 变异携带者患 MetS 的风险增加。在更大的意大利队列中，这种变异与体重指数、高血糖和胰岛素抵抗呈正相关，与血清高密度脂蛋白胆固醇呈负相关。 rs146052672 变异与 MetS 之间的关联独立于 T2D 发生，表明 HMGA1 基因缺陷在 MetS 和其他胰岛素抵抗相关病症中发挥致病作用。总的来说，我们的结果表明 rs146052672 变异代表了 MetS 的早期预测标记，也是治疗的预测工具。
The metabolic syndrome (MetS) is a common disorder, where systemic insulin-resistance is associated with increased risk for type 2 diabetes (T2D) and cardiovascular disease. Identifying genetic traits influencing risk and progression of MetS is important. We and others previously reported a functional HMGA1 gene variant, rs146052672, predisposing to T2D. Here we investigated the association of rs146052672 variant with MetS and related components. In a case-control study from Italy and Turkey, increased risk of MetS was seen among carriers of the HMGA1 variant. In the larger Italian cohort, this variant positively correlated with BMI, hyperglycemia and insulin-resistance, and negatively correlated with serum HDL-cholesterol. Association between rs146052672 variant and MetS occurred independently of T2D, indicating that HMGA1 gene defects play a pathogenetic role in MetS and other insulin-resistance-related conditions. Overall, our results indicate that the rs146052672 variant represents an early predictive marker of MetS, as well as a predictive tool for therapy.