LETTER TO JMG

The Human Genetics Division, University of Southampton School of Medicine, Southampton, UK

Correspondence to:
Correspondence to:
Dr Shu Ye
Human Genetics Division, University of Southampton School of Medicine, Duthie Building (808), Southampton General Hospital, Southampton SO16 6YD, UK; shu.ye@soton.ac.uk

Keywords: peroxisome proliferator activated receptor-; genetic variant; obesity; meta-analysis

Abbreviations: BMI, body mass index; CAD, coronary artery disease; PPAR-, peroxisome proliferator activated receptor-

Peroxisome proliferator activated receptor- (PPAR-) is a transcription factor abundantly expressed in adipocytes, and plays a key role in the regulation of adipocyte differentiation, lipid storage, glucose homeostasis, and blood pressure.¹ Several rare, dominant negative mutations have been detected in three families with severe insulin resistance, diabetes, and hypertension,² while a rare, gain of function mutation has been detected in four unrelated individuals with extreme obesity.³ In addition, a meta-analysis based on data from over 3000 individuals has shown that a common polymorphism in the PPAR- gene has an influence on individual susceptibility to type 2 diabetes.^4–8 Taken together, these findings indicate that rare, severe mutations of the PPAR- gene may cause extreme metabolic syndrome in a small number of patients, while common, mild variants of this gene may contribute to the common, multifactorial forms of these disorders.

Systematic screening of the PPAR- gene for sequence variants has identified . . . [Full text of this article]

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