HLA-B27 and psoriatic disease: a modern view of an old relationship

银屑病性关节炎 银屑病 医学 疾病 病因学 人类白细胞抗原 等位基因 人口 免疫学 遗传倾向 遗传学 病理 生物 抗原 基因 环境卫生
作者
Rubén Queiró,Isla Morante,Iván Cabezas‐Rodríguez,B. Acasuso
出处
期刊:Rheumatology [Oxford University Press]
卷期号:55 (2): 221-229 被引量:74
标识
DOI:10.1093/rheumatology/kev296
摘要

Psoriasis and PsA are the main phenotypes of psoriatic disease. Both conditions are highly polygenic diseases in which stochastic and environmental factors are crucial in the pathogenic process. Although the MHC region is a highly dense genetic area, most of the genetic basis of psoriatic disease within it resides in the HLA region. For decades, HLA-C*06 has been accepted as the main descriptor of the two main phenotypes of skin psoriasis. There is now compelling evidence to suggest that HLA-C*06 is only a genetic biomarker for skin involvement and not for joint involvement in psoriatic disease. The role of HLA-B*27 in the genetic aetiology of PsA has been recognized since the 1970s. Recent population case–control studies with adequate patient groups and replication cohorts, as well as confirmation studies in family pedigrees through the use of modern molecular typing methods, have reinforced the aetiological role of this allele in PsA. These studies have offered a new vision of the role of this allele in disease expression. This review contextualizes the latest findings on the role of HLA-B27 in psoriatic disease, emphasizing those aspects of particular interest for clinical practice.

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