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 Presentation

"Genetics of Obesity"

Dr. Claude Bouchard (biography)
English - 2005-04-14 - 39 minutes
(44 slides)

Summary :
Obesity is one of the most pressing public health problems in the industrialized world. Twin, adoption, and family studies have shown that genetic factors play a significant role in the pathogenesis of obesity. Rare mutations in humans and model organisms have provided insights into the pathways involved in body weight regulation. To date, almost 200 human obesity cases have been ascribed to single gene mutations involving ten different genes. It is likely that such mutations will account for a significant fraction of human obesity cases. Thus far, 113 candidate genes have been found to be significantly associated with obesity or a relevant phenotype. Among these genes, 18 are supported by at least five positive studies. These genes relate to food intake regulation, thermogenesis, adipogenesis, or lipid oxidation rates. More than 50 genome-wide scans have been performed to date and they have generated a total of 204 QTLs. Among them, 38 were replicated in two studies or more. Genetic studies of human variation in abdominal adiposity have generated positive results for a few candidate genes. Additionally, three genomic scans have revealed a number of QTLs but no replication. Superimposed on the genetic evidence is the emerging research on the importance of epigenetics in determining the risk of obesity and related metabolic disorders, particularly type 2 diabetes. This body of data confirms that the genetic dissection of the most common forms of human obesity is possible but will be a complex undertaking.

Learning objectives :
After viewing this presentation, participants will be able to discuss:
• The four adiposity phenotypes
• The five genetic hypotheses of obesity
• The evidence for single gene diseases
• The evidence for oligogenic disorders

Bibliographic references :
Pietilainen KH, Rissanen A, Kaprio J, Makimattila S, Hakkinen AM, Westerbacka J, Sutinen J, Vehkavaara S, Yki-Jarvinen H. Acquired obesity is associated with increased liver fat, intra-abdominal fat, and insulin resistance in young adult monozygotic twins. Am J Physiol Endocrinol Metab. 2005 Apr;288(4):E768-74. Epub 2004 Dec 7.

Bouchard C, Tremblay A, Despres JP, Nadeau A, Lupien PJ, Theriault G, Dussault J, Moorjani S, Pinault S, Fournier G. The response to long-term overfeeding in identical twins. N Engl J Med. 1990 May 24;322(21):1477-82.

Perusse L, Rankinen T, Zuberi A, Chagnon YC, Weisnagel SJ, Argyropoulos G, Walts B, Snyder EE, Bouchard C. The human obesity gene map: the 2004 update. Obes Res. 2005 Mar;13(3):381-490.

Human Obesity Gene Map Website

   


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