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结节病的流行病学、人口统计学及遗传学

Epidemiology, demographics, and genetics of sarcoidosis.

作者信息

Rybicki B A, Maliarik M J, Major M, Popovich J, Iannuzzi M C

机构信息

Division of Biostatistics and Research Epidemiology, Henry Ford Health System, Detroit, MI 48202, USA.

出版信息

Semin Respir Infect. 1998 Sep;13(3):166-73.

PMID:9764947
Abstract

Epidemiological knowledge of sarcoidosis is based mainly on studies performed more than 30 years ago. These early case-control studies produced some interesting risk factor-disease associations, but a clear causative mechanism in sarcoidosis remains unknown. Studies in military and veteran populations showed a clear preponderance of sarcoidosis in African Americans compared with Caucasians. Our recent sarcoidosis incidence study in a racially heterogeneous population found African Americans at three- to fourfold greater risk, which was less than the 10 to 17 times greater risk previously reported. Females are consistently found at greater risk than males, although the relative risk difference generally does not exceed two. The striking racial differences and numerous reports of familial clustering suggest genetic susceptibility. We have found that familial sarcoidosis is almost three times more common in African-American (17%) than Caucasian cases (6%). Future genetic studies can benefit from the extensive catalog of candidate genes that is emerging from the human genome project. The epidemiological evidence to date strongly suggests that studies seeking causes for sarcoidosis need to consider both environmental and genetic risk factors to be successful because the two likely interact with each other to produce disease.

摘要

结节病的流行病学知识主要基于30多年前开展的研究。这些早期的病例对照研究得出了一些有趣的风险因素与疾病的关联,但结节病明确的致病机制仍然未知。针对军人和退伍军人的研究表明,与白种人相比,非洲裔美国人患结节病的比例明显更高。我们最近在一个种族多样化人群中开展的结节病发病率研究发现,非洲裔美国人患病风险是其他人种的三到四倍,这一比例低于之前报道的10至17倍。女性患结节病的风险始终高于男性,尽管相对风险差异一般不超过两倍。显著的种族差异以及众多关于家族聚集性的报告表明存在遗传易感性。我们发现,家族性结节病在非洲裔美国人中(17%)几乎是白种人(6%)的三倍。未来的基因研究可以受益于人类基因组计划中不断涌现的大量候选基因目录。迄今为止的流行病学证据有力地表明,要成功找出结节病的病因,相关研究需要同时考虑环境和遗传风险因素,因为这两者可能相互作用导致疾病发生。

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