Enrichment of Motilin Receptor Loss-of-Function Variants in Gastroparesis.

ABSTRACT:

Introduction

Gastroparesis is a serious medical condition characterized by delayed gastric emptying and symptoms of nausea, vomiting, bloating, fullness after meals, and abdominal pain.

Methods

To ascertain the genetic risk factors for gastroparesis, we conducted the largest thus far whole-genome sequencing study of gastroparesis. We investigated the frequency and effect of rare loss-of-function variants in patients with both idiopathic and diabetic gastroparesis enrolled in a clinical study of gastroparesis.

Results

Among rare loss-of-function variants, we reported an increased frequency of a frameshift mutation p.Leu202ArgfsTer105, within the motilin receptor gene, variant rs562138828 (odds ratio 4.9). We currently replicated this finding in an independent large coh

SUBMITTER: Smieszek SP 

PROVIDER: S-EPMC9038497 | biostudies-literature | 2022 Apr

REPOSITORIES: biostudies-literature