School of Biomedical Sciences, Faculty of Health, and Centre for Genomics and Personalised Health, Queensland University of Technology, Brisbane, QLD, Australia.
School of Biomedical Sciences, Faculty of Health, and Centre for Genomics and Personalised Health, Queensland University of Technology, Brisbane, QLD, Australia.
Am J Hum Genet. 2021 Nov 4;108(11):2086-2098. doi: 10.1016/j.ajhg.2021.09.011. Epub 2021 Oct 12.
The availability of genome-wide association studies (GWASs) for human blood metabolome provides an excellent opportunity for studying metabolism in a heritable disease such as migraine. Utilizing GWAS summary statistics, we conduct comprehensive pairwise genetic analyses to estimate polygenic genetic overlap and causality between 316 unique blood metabolite levels and migraine risk. We find significant genome-wide genetic overlap between migraine and 44 metabolites, mostly lipid and organic acid metabolic traits (FDR < 0.05). We also identify 36 metabolites, mostly related to lipoproteins, that have shared genetic influences with migraine at eight independent genomic loci (posterior probability > 0.9) across chromosomes 3, 5, 6, 9, and 16. The observed relationships between genetic factors influencing blood metabolite levels and genetic risk for migraine suggest an alteration of metabolite levels in individuals with migraine. Our analyses suggest higher levels of fatty acids, except docosahexaenoic acid (DHA), a very long-chain omega-3, in individuals with migraine. Consistently, we found a causally protective role for a longer length of fatty acids against migraine. We also identified a causal effect for a higher level of a lysophosphatidylethanolamine, LPE(20:4), on migraine, thus introducing LPE(20:4) as a potential therapeutic target for migraine.
全基因组关联研究(GWAS)可用于人类血液代谢组学,为研究遗传性疾病(如偏头痛)中的代谢提供了极好的机会。我们利用 GWAS 汇总统计数据,进行全面的成对遗传分析,以估计 316 种独特血液代谢物水平与偏头痛风险之间的多基因遗传重叠和因果关系。我们发现偏头痛与 44 种代谢物之间存在显著的全基因组遗传重叠,这些代谢物主要与脂质和有机酸代谢特征有关(FDR<0.05)。我们还在 8 个独立的基因组位置(染色体 3、5、6、9 和 16 上)确定了 36 种代谢物,这些代谢物主要与脂蛋白有关,它们与偏头痛具有共同的遗传影响,在 8 个独立的基因组位置上的后验概率>0.9)。遗传因素影响血液代谢物水平与偏头痛遗传风险之间的观察到的关系表明,偏头痛患者的代谢物水平发生了改变。我们的分析表明,偏头痛患者体内除了二十二碳六烯酸(DHA)等非常长链ω-3 脂肪酸外,其他脂肪酸水平较高。一致地,我们发现脂肪酸长度较长对偏头痛具有保护作用。我们还确定了较高水平的溶血磷脂酰乙醇胺(LPE)(20:4)对偏头痛有因果影响,从而将 LPE(20:4)作为偏头痛的潜在治疗靶点。