Expert Reviews in Molecular Medicine: http://www.expertreviews.org/
DOI: 10.1017/S1462399406000147; 20 November 2006
Francis Vasseur, David Meyre and Philippe Froguel (2006) Adiponectin, type 2 diabetes and the metabolic syndrome:
lessons from human genetic studies. Expert Rev. Mol. Med. Vol. 8, Issue 27, DOI: 10.1017/S1462399406000147

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

Francis Vasseur ^a1, David Meyre ^a2 and Philippe Froguel ^{a2 a3 c1}

^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.

^c1 Corresponding author: Philippe Froguel, Genomic Medicine, Imperial College London, Hammersmith Hospital, Du Cane Road, London, W12 0NN, UK. Tel: +44 (0)208 383 3989; Fax: +44 (0)208 383 3989; E-mail: p.froguel@imperial.ac.uk

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.

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