Genetic Variants in SGLT1, Glucose Tolerance, and Cardiometabolic Risk.

ABSTRACT:

Background

Loss-of-function mutations in the SGLT1 (sodium/glucose co-transporter-1) gene result in a rare glucose/galactose malabsorption disorder and neonatal death if untreated. In the general population, variants related to intestinal glucose absorption remain uncharacterized.

Objectives

The goal of this study was to identify functional SGLT1 gene variants and characterize their clinical consequences.

Methods

Whole exome sequencing was performed in the ARIC (Atherosclerosis Risk in Communities) study participants enrolled from 4 U.S. communities. The association of functional, nonsynonymous substitutions in SGLT1 with 2-h oral glucose tolerance test results was determined. Variants related to impaired glucose tolerance were studied, and Mendelian randomization ana

SUBMITTER: Seidelmann SB 

PROVIDER: S-EPMC6403489 | biostudies-literature | 2018 Oct

REPOSITORIES: biostudies-literature