A Noncoding Variant Near PPP1R3B Promotes Liver Glycogen Storage and MetS, but Protects Against Myocardial Infarction.

ABSTRACT:

Context

Glycogen storage diseases are rare. Increased glycogen in the liver results in increased attenuation.

Objective

Investigate the association and function of a noncoding region associated with liver attenuation but not histologic nonalcoholic fatty liver disease.

Design

Genetics of Obesity-associated Liver Disease Consortium.

Setting

Population-based.

Main outcome

Computed tomography measured liver attenuation.

Results

Carriers of rs4841132-A (frequency 2%-19%) do not show increased hepatic steatosis; they have increased liver attenuation indicative of increased glycogen deposition. rs4841132 falls in a noncoding RNA LOC157273 ~190 kb upstream of PPP1R3B. We demonstrate that rs4841132-A increases PPP1R3B through a cis genetic effect. Using C

SUBMITTER: Kahali B 

PROVIDER: S-EPMC7823249 | biostudies-literature | 2021 Jan

REPOSITORIES: biostudies-literature