Genetic basis for metabolic diseases detected

Sunday, 26 September, 2004


Oxford geneticists have closed in on the genetic basis for risk factors of metabolic diseases such as hypertension, obesity and diabetes.

Studying 1300 patients and healthy volunteers from over 400 families across Oxfordshire, the research team located several variations in the DNA sequence of the lipid phosphate SHIP2 gene which are associated with an increased risk for a cluster of common and increasingly frequent disorders, referred to as the 'metabolic syndrome' or 'Syndrome X'. Syndrome X, whose genetic basis is as yet unexplained, includes obesity, hypertension, type 2 diabetes and dyslipidaemia, and is a common risk factor for cardiovascular disease and atherosclerosis.

SHIP2 is a key cellular regulator of the biological effects of the hormone insulin which lowers the levels of blood sugar. Reduce insulin action, also called insulin resistance, is the common feature of the pathological components of Syndrome X.

Dr Dominique Gauguier, Wellcome Senior Research Fellow at the Wellcome Trust Centre for Human Genetics at Oxford University, and his team identified 50 sequence variants in SHIP2 which were used to test their possible association with the different disease components of the Syndrome X diagnosed in the patients.

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