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Exploring the Role of Genetics in Sarcoidosis and Its Impact on the Development of Cardiac Sarcoidosis
被引:2
|作者:
Sivalokanathan, Sanjay
[1
]
机构:
[1] Univ Penn Hlth Syst, Penn Hosp, Dept Internal Med, Philadelphia, PA 19107 USA
关键词:
cardiac sarcoidosis;
genetics;
sarcoid;
inflammatory cardiomyopathy;
GENOME-WIDE SEARCH;
PULMONARY SARCOIDOSIS;
RISK LOCUS;
POLYMORPHISMS;
ASSOCIATION;
GENES;
SUSCEPTIBILITY;
INVOLVEMENT;
EXPRESSION;
EPIDEMIOLOGY;
D O I:
10.3390/cardiogenetics14020009
中图分类号:
R5 [内科学];
学科分类号:
1002 ;
100201 ;
摘要:
Sarcoidosis is a multifaceted and multisystemic inflammatory disorder, the etiology of which remains unknown. However, it has been suggested that an intricate interplay between genetic, environmental, and inflammatory factors may contribute to the development and progression of sarcoidosis. Although 30-50% of patients demonstrate extra-pulmonary manifestations, cardiac involvement is rare, affecting only 2-5% of cases. Diagnosis is often challenging, relying on the careful application of clinical judgment, histopathological evidence, and imaging biomarkers. In this literature review, we aim to provide a comprehensive overview of the current understanding of the genetic basis of sarcoidosis, the contribution to the pathogenesis of the disorder, and discuss the potential link between certain genetic variants and the development of cardiac sarcoidosis.
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页码:106 / 121
页数:16
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