Phenotypic and molecular evaluation of a chromosome 1q region with linkage and association to type 2 diabetes in humans.

ABSTRACT:

Objective

Linkage to type 2 diabetes (T2D) is well replicated on chromosome 1q21-q23. Within this region, T2D was associated with common single nucleotide polymorphisms that marked an extended linkage disequilibrium block, including the liver pyruvate kinase gene (PKLR), in several European-derived populations. In this study we sought to determine the molecular basis for the association and the phenotypic consequences of the risk haplotype.

Research design and methods

Genes surrounding PKLR were resequenced in European-American and African-American cases and controls, and association with T2D was tested. Copy number variants (CNVs) were tested for four regions with real-time PCR. Expression of genes in the region was tested in adipose and muscle from nondiabetic subjects wit

SUBMITTER: Wang H 

PROVIDER: S-EPMC2682467 | biostudies-literature | 2009 Apr

REPOSITORIES: biostudies-literature