全基因组关联研究
生物
免疫学
表达数量性状基因座
炎症
疾病
免疫系统
多发性硬化
遗传关联
遗传学
溃疡性结肠炎
单核苷酸多态性
白细胞介素10
数量性状位点
基因
基因型
医学
内科学
作者
Ari Ahola‐Olli,Peter Würtz,Aki S. Havulinna,Kristiina Aalto,Niina Pitkänen,Terho Lehtimäki,Mika Kähönen,Leo‐Pekka Lyytikäinen,Emma Raitoharju,Ilkka Seppälä,Antti‐Pekka Sarin,Samuli Ripatti,Aarno Palotie,Markus Perola,Jorma Viikari,Sirpa Jalkanen,Mikael Maksimow,Veikko Salomaa,Marko Salmi,Johannes Kettunen,Olli T. Raitakari
标识
DOI:10.1016/j.ajhg.2016.11.007
摘要
Circulating cytokines and growth factors are regulators of inflammation and have been implicated in autoimmune and metabolic diseases. In this genome-wide association study (GWAS) of up to 8,293 Finns we identified 27 genome-widely significant loci (p < 1.2 × 10-9) for one or more cytokines. Fifteen of the associated variants had expression quantitative trait loci in whole blood. We provide genetic instruments to clarify the causal roles of cytokine signaling and upstream inflammation in immune-related and other chronic diseases. We further link inflammatory markers with variants previously associated with autoimmune diseases such as Crohn disease, multiple sclerosis, and ulcerative colitis and hereby elucidate the molecular mechanisms underpinning these diseases and suggest potential drug targets.
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