Autoimmune Diseases Unit, Department of Medicine, Hospital CIMA-Sanitas, Barcelona, and Laboratory of Autoimmune Diseases Josep Font, IDIBAPS-CELLEX, Department of Autoimmune Diseases, ICMiD, Hospital Clínic, University of Barcelona, Spain.
Laboratory of Autoimmune Diseases Josep Font, IDIBAPS-CELLEX, Department of Autoimmune Diseases, ICMiD, Hospital Clínic, University of Barcelona, and Primary Healthcare Transversal Research Group, IDIBAPS, Barcelona, Spain.
Clin Exp Rheumatol. 2019 Nov-Dec;37(6):1052-1064. Epub 2019 Aug 26.
In sarcoidosis, a rare multiorgan disease of unknown aetiology characterised by non-caseating epitheloid cell granulomas, three geoepidemiological factors are major aetiopathogenic factors: geolocation, ethnicity, and personal environment. Geographically, sarcoidosis is mainly reported in the Northern Hemisphere, with the highest incidence rates uniformly reported in countries located at the highest latitudes. The main geoepidemiological-driven differences across the world are of greater female involvement in Southern Europe, the Southern US and Japan, a differentiated radiological pattern (predominance of stage I in Southern Europe and Middle East/Asia and of stage II in Northern Europe, China and India, with the US and Japan having the highest frequencies of stages III/IV) and the extrathoracic phenotype: the most frequent extrathoracic organs involved are the skin in Southern Europe and Middle East/Asia, the eyes in Northern Europe, Northeast US and Japan, the liver in India and the lymph nodes in China. In addition, there are large ethnicity-driven variations in the frequency, epidemiology, clinical expression and outcome of sarcoidosis. The highest incidence rates are uniformly reported in Black/African-American people, independently of the geographical location, with rates between 2- and 10-fold higher than those reported in White people living in the same geographical area. Furthermore, ethnicity heavily influences the clinical phenotype by modifying the age at diagnosis and the rates of thoracic and extrathoracic involvements. Geoepidemiological studies enhanced by big data may yield important clues to understanding the role of these factors in the frequency and clinical phenotypes of sarcoidosis.
在结节病中，这是一种病因不明的罕见多器官疾病，其特征是非干酪样上皮样细胞肉芽肿，有三个地理流行病学因素是主要的病因学因素：地理位置、种族和个人环境。从地理上看，结节病主要在北半球报告，发病率最高的国家均匀地分布在高纬度地区。世界各地主要的地理流行病学差异在于，在南欧、美国南部和日本，女性发病更多；放射学表现不同（南欧和中东/亚洲以 I 期为主，北欧、中国和印度以 II 期为主，美国和日本的 III/IV 期发病率最高）；以及胸外表型：最常累及的胸外器官是南欧和中东/亚洲的皮肤、北欧、美国东北部和日本的眼睛、印度的肝脏和中国的淋巴结。此外，结节病的频率、流行病学、临床表现和结局在种族方面也存在很大差异。黑人/非裔美国人的发病率最高，不论地理位置如何，其发病率均比同一地理区域内的白人高 2-10 倍。此外，种族通过改变诊断年龄和胸内和胸外受累的比率，严重影响临床表型。通过大数据进行的地理流行病学研究可能为了解这些因素在结节病的频率和临床表型中的作用提供重要线索。
