Immunogenomics Laboratory, Department of Human Genetics and Molecular Medicine, Central University of Punjab, Bathinda, 151401, India.
Department of Rheumatology, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, 110029, India.
Rheumatol Int. 2021 Dec;41(12):2069-2089. doi: 10.1007/s00296-021-05011-1. Epub 2021 Oct 11.
Granulomatosis with polyangiitis (GPA) previously known as Wegener's granulomatosis (WG) is a rare rheumatic disease affecting subjects of all ages. Prevalence and incidence of this systemic disease greatly varies across different ethnic groups. GPA is the commonest form of ANCA-associated vasculitis (AAV) with PR3 positivity among 85-95% of the cases. Scientific investigations of GPA is warranted because its severity, clinical heterogeneity, fast disease manifestation and end-organ damage. The etiology of GPA is still unknown. Major role of HLA and non-HLA genes with immune functions were identified, however, very limited replication was observed in different ethnic populations. In the present review, we have discussed the updates on the global epidemiology and contribution of HLA and major non-HLA genes/loci in GPA. We have also highlighted the cross disease association of GPA associated genes that may help in better disease management and predictive medicine. We proposed that high-resolution HLA typing and development of genetic risk model would help in early disease diagnosis and understanding the prognosis.
肉芽肿性多血管炎（GPA）以前称为韦格纳氏肉芽肿（WG），是一种罕见的风湿性疾病，影响所有年龄段的人群。这种全身性疾病的患病率和发病率在不同的种族群体中有很大的差异。GPA 是最常见的 ANCA 相关性血管炎（AAV）形式，其中 85-95%的病例 PR3 呈阳性。由于 GPA 的严重性、临床表现的异质性、快速发病和终末器官损伤，因此有必要对其进行科学研究。GPA 的病因仍不清楚。虽然已经确定了与免疫功能相关的 HLA 和非 HLA 基因的主要作用，但在不同的种族群体中观察到的复制非常有限。在本次综述中，我们讨论了 GPA 的全球流行病学以及 HLA 和主要非 HLA 基因/位点在 GPA 中的作用的最新进展。我们还强调了 GPA 相关基因的跨疾病关联，这可能有助于更好的疾病管理和预测医学。我们提出，高分辨率 HLA 分型和遗传风险模型的发展将有助于早期疾病诊断和了解预后。
