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A Val227Ala polymorphism in the peroxisome proliferator activated receptor (PPAR) gene is associated with variations in serum lipid levels

K Yamakawa-Kobayashi¹, H Ishiguro¹, T Arinami¹, R Miyazaki², H Hamaguchi¹

¹ Department of Medical Genetics, Institute of Basic Medical Sciences, University of Tsukuba, Tsukuba, Ibaraki 305-8575, Japan
² Department of Internal Medicine, Kudanzaka Hospital, Kudan-minami, Tokyo 102-0074, Japan

Correspondence to:
Correspondence to:
Dr K Yamakawa-Kobayashi, Department of Medical Genetics Institute of Basic Medical Sciences, University of Tsukuba, Tsukuba, Ibaraki 305-8575, Japan;
kkimiko@md.tsukuba.ac.jp

Keywords: PPAR gene; Val227Ala polymorphism; serum lipid levels

Peroxisome proliferator activated receptors (PPARs) are ligand activated transcription factors that belong to the nuclear receptor superfamily.^{1, 2} PPARs regulate gene transcription by heterodimerising with retinoic X receptors and binding to DNA sequences, termed PPAR response elements (PPRE), in the promoters of target genes.^{2, 3}

Three different PPAR genes (, /ß, and ), each displaying distinct tissue and developmental expression patterns, have been identified.^{4, 5} PPAR, the first member of the PPAR family to be identified, was cloned as an orphan receptor activated by agents that induce peroxisome proliferation.⁶ It is expressed primarily in tissues with high levels of fatty acid oxidation, such as those in liver, kidney, heart, and muscle.^{4, 6} Most target genes of PPAR encode enzymes involved in oxidation of cellular fatty acids, lipid transporters, and apolipoproteins.^{1, 7} Furthermore, PPAR is known to mediate the actions of fibrates, which are hypolipidaemic drugs that decrease plasma triglycerides and increase high density . . . [Full text of this article]

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• Liu, M. H., Li, J., Shen, P., Husna, B., Tai, E. S., Yong, E. L. (2008). A Natural Polymorphism in Peroxisome Proliferator-Activated Receptor-{alpha} Hinge Region Attenuates Transcription due to Defective Release of Nuclear Receptor Corepressor from Chromatin. Mol. Endocrinol. 22: 1078-1092 [Abstract] [Full Text]  
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