Genetics in sarcoidosis.
Genetics in sarcoidosis.
复制标题
结节病的遗传学。
DOI：
10.1097/mcp.0000000000000798
复制
发表时间：
2021-09-01
影响因子：
3.3
通讯作者：
Maier LA
中科院分区：
文献类型：
--
作者：
Spagnolo P;Maier LA
Epidemiological and clinical observations as well as familial clustering support the existence of a genetic predisposition to sarcoidosis. In this article, we review the most recent findings in genetics of sarcoidosis and discuss how the identification of risk alleles may help advancing our understanding of disease aetiology and development. Genetic studies of sarcoidosis phenotypes have identified novel and ancestry-specific associations. Gene-environment interaction studies highlighted the importance of integrating genetic information when assessing the relationship between sarcoidosis and environmental exposures. A case-control-family study revealed that the heritability of sarcoidosis is only 49%, suggesting the existence of additional important contributors to disease risk. The application of whole-exome sequencing has identified associations with disease activity and prognosis. Finally, gene expression studies of circulating immune cells have identified shared and unique pathways between sarcoidosis and other granulomatous diseases. Sarcoidosis genetic research has led to the identification of a number of associations with both sarcoidosis per se and disease phenotypes. Newer sequencing technologies are likely to increase the number of genetic variants associated with sarcoidosis. However, studying phenotypically and ethnically homogeneous patient subsets remains critically important regardless of the genetic approach used.
