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在GFAP中常见的蛋白质改变变异与日本老年人口的白质病变有关

Yoshihiko Furuta^1,2, Masato Akiyama³, Naoki Hirabayashi^1,4,5

¹Department of Epidemiology and Public Health, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.

NPJ genomic medicine

|November 13, 2024

概括

这项研究确定了影响亚洲人群白质病变 (WML) 量的遗传因素. 一种常见的GFAP基因变异显著影响WMLs,突出其在大脑健康中的作用.

科学领域:

神经遗传学神经遗传学
神经成像是一种神经成像.
人口遗传学人口遗传学

背景情况:

白质病变 (WMLs) 是大脑衰老和血管风险的标志物,但它们在亚洲人群中的遗传基础仍未得到充分探索.
了解WMLs的遗传结构对于开发有针对性的干预措施和个性化医疗方法至关重要.

研究的目的:

进行全基因组关联研究 (GWAS),以确定与大亚洲队列中白质病变 (WML) 量相关的遗传位置.
验证已知的WML相关位点,并发现有助于WMLs的新型遗传因素.

主要方法:

全基因组关联研究 (GWAS) 在9479名来自日本前性研究协作老龄化和痴呆症 (JPSC-AD) 队列的参与者中,分析了大脑MRI和DNA数据.
结合JPSC-AD GWAS数据与公开可用的英国生物库总结统计数据的元分析.
集成表达定量特征位置 (eQTL) 数据,以调查已识别的位置的功能影响.

主要成果:

GWAS证实了之前已知的三个与WML相关的位点:SH3PXD2A,GFAP和TRIM47.
通过meta-GWAS识别了与SLC2A12相关的6q23.2的新型位点.
在东亚人中普遍存在的GFAP基因中,一种常见的误解变异 (p.D295N) 被确定为影响WML体积的主要变异.
在JPSC-AD和英国生物库队列之间观察到20种变体的效果大小中等相关性.

结论:

这项研究阐明了亚洲人群中WML体积的关键遗传贡献者,扩大了以前识别的位置之外的知识.
GFAP基因,特别是东亚人中常见的p.D295N误解变异,在调节WML体积方面发挥着重要作用.
新发现的6q23.2位点,可能通过SLC2A12表达作用,代表了WML研究的新目标.

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