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种族和遗传血统对系统性红斑狼疮的流行病学、临床特征及预后的影响。

The effect of ethnicity and genetic ancestry on the epidemiology, clinical features and outcome of systemic lupus erythematosus.

作者信息

Lewis Myles J, Jawad Ali S

机构信息

Centre for Experimental Medicine and Rheumatology, William Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, UK.

出版信息

Rheumatology (Oxford). 2017 Apr 1;56(suppl_1):i67-i77. doi: 10.1093/rheumatology/kew399.

DOI:10.1093/rheumatology/kew399
PMID:27940583
Abstract

In this in-depth review, we examine the worldwide epidemiology of SLE and summarize current knowledge on the influence of race/ethnicity on clinical manifestations, disease activity, damage accumulation and outcome in SLE. Susceptibility to SLE has a strong genetic component, and trans-ancestral genetic studies have revealed a substantial commonality of shared genetic risk variants across different genetic ancestries that predispose to the development of SLE. The highest increased risk of developing SLE is observed in black individuals (incidence 5- to 9-fold increased, prevalence 2- to 3-fold increased), with an increased risk also observed in South Asians, East Asians and other non-white groups, compared with white individuals. Black, East Asian, South Asian and Hispanic individuals with SLE tend to develop more severe disease with a greater number of manifestations and accumulate damage from lupus more rapidly. Increased genetic risk burden in these populations, associated with increased autoantibody reactivity in non-white individuals with SLE, may explain the more severe lupus phenotype. Even after taking into account socio-economic factors, race/ethnicity remains a key determinant of poor outcome, such as end-stage renal failure and mortality, in SLE. Community measures to expedite diagnosis through increased awareness in at-risk racial/ethnic populations and ethnically personalized treatment algorithms may help in future to improve long-term outcomes in SLE.

摘要

在本深度综述中,我们研究了系统性红斑狼疮(SLE)的全球流行病学,并总结了目前关于种族/民族对SLE临床表现、疾病活动、损伤累积及预后影响的认识。SLE易感性具有很强的遗传成分,跨祖先遗传研究揭示了不同遗传血统中共享遗传风险变异的大量共性,这些变异易导致SLE的发生。与白人个体相比,黑人个体患SLE的风险增加最高(发病率增加5至9倍,患病率增加2至3倍),南亚人、东亚人和其他非白人群体的风险也有所增加。患有SLE的黑人、东亚人、南亚人和西班牙裔个体往往病情更严重,表现更多,狼疮损伤累积更快。这些人群中遗传风险负担增加,与SLE非白人个体自身抗体反应性增加有关,这可能解释了更严重的狼疮表型。即使考虑到社会经济因素,种族/民族仍是SLE不良预后(如终末期肾衰竭和死亡率)的关键决定因素。通过提高对高危种族/民族人群的认识来加快诊断的社区措施以及种族个性化治疗算法,未来可能有助于改善SLE的长期预后。

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