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检查墨西哥裔成年人肝硬化病的遗传关联

Mario Jesus Trejo¹, Kristin E Morrill², Yann C Klimentidis³

¹Public Health Sciences Division, Fred Hutchinson Cancer Center, Seattle, WA 98109, USA.

Annals of hepatology

|June 4, 2023

概括

与非酒精性脂肪性肝病 (NAFLD) 相关的遗传变异在欧洲人中大多没有与墨西哥裔成年人的肝硬化有关. 只有PNPLA3基因变异显示出显著的联系,突出了NAFLD的种群特异性遗传因素.

科学领域:

遗传学遗传学是一个
肝病学肝病学是一种肝病学.
人口健康人口健康

背景情况:

非酒精性脂肪肝 (NAFLD) 是一个日益严重的全球健康问题.
像LYPLAL1,GCKR,PPP1R3B,TM6SF2,MBOAT7和PNPLA3这样的基因中的单核酸多态 (SNP) 与欧洲人群中的NAFLD有关.
有限的研究存在于这些遗传关联在不同的种族群体,特别是那些墨西哥人.

研究的目的:

调查之前已确定的NAFLD相关SNP与墨西哥裔成年人肝硬化症的关联.
为了确定身体质量指数 (BMI) 是否会改变这些遗传关联.

主要方法:

对307名墨西哥裔成年人 (18-64岁,BMI ≥25 kg/m2) 进行基因定型,针对六个关键SNP (rs12137855,rs1260326,rs4240624,rs58542926,rs641738,rs738409) 进行基因定型.
使用控制衰减参数的短暂弹性图 (FibroScan®) 评估肝脏肥胖症.
回归模型分析SNP与肝硬化症的关联,BMI作为潜在的修饰因素.

主要成果:

在LYPLAL1,GCKR,PPP1R3B,TM6SF2或MBOAT7.7中没有发现肝肥胖症和SNP之间的显著关联.
在未调整和调整模型 (p<0.01) 中,PNPLA3 SNP (rs738409) 与肝肥胖症有显著的关联.
体重指数没有证明对遗传关联的修饰作用.

结论:

除了PNPLA3外,在欧洲人群中先前发现的NAFLD相关的SNP并没有在这个墨西哥人群中强烈预测肝硬化症.
PNPLA3基因变体是墨西哥裔个体肝硬化症的重要遗传因素.
需要进一步的研究,以确定墨西哥人等高风险人群中NAFLD相关的额外遗传变异.

关键词:

这是NAFLD.非酒精性脂肪性肝病是非酒精性脂肪性肝病.国家统一计划 (SNP) 是一个国家统一计划.

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