Contributions of Rare Gene Variants to Familial and Sporadic FSGS.

ABSTRACT:

Background

Over the past two decades, the importance of genetic factors in the development of FSGS has become increasingly clear. However, despite many known monogenic causes of FSGS, single gene defects explain only 30% of cases.

Methods

To investigate mutations underlying FSGS, we sequenced 662 whole exomes from individuals with sporadic or familial FSGS. After quality control, we analyzed the exome data from 363 unrelated family units with sporadic or familial FSGS and compared this to data from 363 ancestry-matched controls. We used rare variant burden tests to evaluate known disease-associated genes and potential new genes.

Results

We validated several FSGS-associated genes that show a marked enrichment of deleterious rare variants among the cases. However, for s

SUBMITTER: Wang M 

PROVIDER: S-EPMC6727251 | biostudies-literature | 2019 Sep

REPOSITORIES: biostudies-literature