在高患病率的马耳他人群中,多基因脂质变遗传风险评分与糖尿病风险之间的关联
Maria Zammit1,2, Rachel Agius3, Stephen Fava3
1Department of Pathology, Faculty of Medicine and Surgery, University of Malta, Msida, MSD2080, Malta.
Acta diabetologica
|January 27, 2024
概括
与脂质变异相关的遗传变异会增加2型糖尿病的风险,即使在体重指数低的个体中也是如此. 这些多基因风险等位基因驱动胰岛素耐药性,独立于肥胖.
科学领域:
- 遗传学和基因组学 遗传学和基因组学
- 代谢疾病 代谢疾病
- 内分泌学 在内分泌学.
背景情况:
- 2型糖尿病 (T2DM) 具有遗传多样性,源于β细胞功能障碍和胰岛素抵抗.
- 胰岛素抵抗,通常与肥胖有关,有助于心脏代谢并发症.
- 在11个位点的常见变异与胰岛素耐药性,T2DM和冠状动脉疾病有关,形成脂质变的多基因相关物.
研究的目的:
- 调查多基因风险评分 (PRS) 对脂质营养不良与人体测量,血糖和代谢特征的关联.
- 在一个岛屿人口中检查这些关联,其中肥胖和T2DM的流行率很高.
主要方法:
- 这是一项涉及814名马耳他-高加索族裔非亲戚成年人 (477名对照组,337名T2DM病例) 的横截面研究.
- 个体的基因定型,以评估11个与脂质变异相关的变异.
- 探索PRS与各种表型特征之间的关联.
主要成果:
- 较高的多基因脂质变风险得分与较低的脂肪指数 (腰围,BMI) 和增加的胰岛素抵抗 (HOMA-IR) 相相关.
- 在T2DM组中,风险得分增加与动脉质性脱脂症和内脏脂肪功能障碍 (内脏脂肪指数) 相关.
- 与第一四分之一相比,PRS上四分之一的个体表现出较高的T2DM风险.
结论:
- 巩固了多基因脂质变风险基因,代谢综合征和T2DM风险之间的联系,特别是在正常体重的个体中.
- 证明这些风险等位基因独立驱动胰岛素耐药性和T2DM风险,无论BMI增加.
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