Genetics and Clinical Characteristics of PPARγ Variant-Induced Diabetes in a Chinese Han Population.

ABSTRACT:

Objectives

PPARγ variants cause lipodystrophy, insulin resistance, and diabetes. This study aimed to determine the relationship between PPARγ genotypes and phenotypes and to explore the pathogenesis of diabetes beyond this relationship.

Methods

PPARγ2 exons in 1,002 Chinese patients with early-onset type 2 diabetes (diagnosed before 40 years of age) were sequenced. The functions of variants were evaluated by in vitro assays. Additionally, a review of the literature was performed to obtain all reported cases with rare PPARγ2 variants to evaluate the characteristics of variants in different functional domains.

Results

Six (0.6%) patients had PPARγ2 variant-induced diabetes (PPARG-DM) in the early-onset type 2 diabetes group, inc

SUBMITTER: Gong S 

PROVIDER: S-EPMC8576343 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature