Cambridge Journals Online

Adiponectin, type 2 diabetes and the metabolic syndrome: lessons from human genetic studies

Francis Vasseur a1 , David Meyre a2 and Philippe Froguel a2a3c1 a1 Biostatistics Department Medical School and Public Health Clinics, University Hospital, Lille, France. a2 CNRS 8090, Institute of Biology, Pasteur Institute, Lille, France. a3 Genomic Medicine and Genome Centre, Hammersmith Campus, Imperial College London, UK.

Article author query vasseur f     meyre d     froguel p

Abstract

Adiponectin, a protein exclusively secreted by adipose tissue but present at low levels in obesity, is now widely recognised as a key determinant of insulin sensitivity and of protection against obesity-associated metabolic syndrome. In this review we explain how genetic findings have contributed to a better understanding of the physiological role of adiponectin in humans. The adiponectin-encoding gene, ADIPOQ (ACDC), is very polymorphic: many frequent exonic synonymous, intronic and promoter single-nucleotide polymorphisms (SNPs) have been identified, as well as a few rare exonic amino acid substitutions. Several of these variations additively contribute to the modulation of adiponectin level and function, and associate with insulin sensitivity, type 2 diabetes and vascular complications of obesity.