Whole genome sequencing identifies variants associated with sarcoidosis in a family with a high prevalence of sarcoidosis.

ABSTRACT:

Objective

We studied genetic risk factors associated with sarcoidosis within a family with a high prevalence of this disease.

Methods

We studied 41 members of a family with a high rate of sarcoidosis, including an index patient with treatment-resistant neurosarcoidosis. Whole genome sequencing was performed for six affected family members and variations associated with loss of function were filtered out as candidate genes. Findings were validated by using amplicon sequencing within all 41 family members with DNA available and candidate genes were screened on absence and presence within the sarcoidosis affected and non-affected.

Results

Family members (n = 61) from 5 generations were available for participation including 13 subjects diagnosed with sarcoidosis (20%). An

SUBMITTER: Fritz D 

PROVIDER: S-EPMC8357727 | biostudies-literature | 2021 Sep

REPOSITORIES: biostudies-literature