The human leukocyte antigen (HLA) system is the single most important genetic susceptibility factor for many autoimmune diseases and immunological traits. However, in a range of clinical phenotypes the impact of HLA alleles or their combinations on the disease risk are not comprehensively understood. For systematic population-level analysis of HLA-phenotype associations we imputed the alleles of classical HLA genes in a discovery cohort of 146,630 and replication cohort of 89,340 Finns of whom SNP genotype data and 3,355 disease phenotypes were available as part of the FinnGen project. The results suggest HLA associations in phenotypes not reported previously and highlight interactions between HLA genes and alleles in autoimmune diseases. Furthermore, shared HLA alleles in autoimmune and infectious diseases support a genetic link between these diseases.

中文翻译：

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来自235,000名芬兰生物库参与者的全基因组HLA协会概况

人类白细胞抗原（HLA）系统是许多自身免疫性疾病和免疫性状的最重要的遗传易感性因子。但是，在一系列临床表型中，尚未完全了解HLA等位基因或其组合对疾病风险的影响。为了对HLA表型关联进行系统的人群水平分析，我们将经典HLA基因的等位基因估算为146,630个发现队列和89,340个Finns的复制队列，其中FinnGen项目提供了SNP基因型数据和3,355个疾病表型。结果表明，HLA在表型上没有相关性报道，并突出了自身免疫性疾病中HLA基因与等位基因之间的相互作用。此外，