De novo and rare mutations in the HSPA1L heat shock gene associated with inflammatory bowel disease.

ABSTRACT:

Background

Inflammatory bowel disease (IBD) is a chronic, relapsing inflammatory disease of the gastrointestinal tract which includes ulcerative colitis and Crohn's disease. Genetic risk factors for IBD are not well understood.

Methods

We performed a family-based whole exome sequencing (WES) analysis on a core family (Family A) to identify potential causal mutations and then analyzed exome data from a Caucasian pediatric cohort (136 patients and 106 controls) to validate the presence of mutations in the candidate gene, heat shock 70 kDa protein 1-like (HSPA1L). Biochemical assays of the de novo and rare (minor allele frequency, MAF < 0.01) mutation variant proteins further validated the predicted deleterious effects of the identified alleles.

Results

In the proband of

SUBMITTER: Takahashi S 

PROVIDER: S-EPMC5270254 | biostudies-literature | 2017 Jan

REPOSITORIES: biostudies-literature