Shu-Yi Liao
Senior Researcher, National Jewish Health
1 active project
Genetic features of sarcoidosis
Scientific Questions Being Studied
Some of the sarcoidosis may progress to fibrotic sarcoidosis, but the etiologies are not fully understood. Genetics may play an important role in the disease's progression. In addition, there might be a racial difference in fibrotic sarcoidosis
Project Purpose(s)
- Ancestry
Scientific Approaches
We hypothesize that there are genetic features that contribute to fibrotic sarcoidosis. Those genes may be related to profibrotic genes such as MUC5B and TERT. We will first identify the sarcoidosis patient using the ICD-10 code. Second, we will identify fibrotic sarcoidosis patients using both the ICD-10 codes of sarcoidosis and pulmonary fibrosis. Controls will draw from the remaining population without a diagnosis of sarcoidosis. The association test will be performed using logistic regression with an additive model adjusted for sex and age and the first two principal components for population stratification. We will analyze data using European and African Americans separately then identify both unique and common risk variants associated with fibrotic sarcoidosis
Anticipated Findings
We will find a set of SNPs or genes associated with fibrotic sarcoidosis. Our findings will facilitate future biomarker development and potential fibrotic sarcoidosis treatment implications.
Demographic Categories of Interest
This study will not center on underrepresented populations.
Data Set Used
Controlled Tier
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