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Updated: Jan 30, 2026

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
Published on: November 3, 2010
Association between PPARs Gene Functional Polymorphisms and Ischemic Stroke in Chinese Uyghur Population
Abstract:
PPARγ and PPARα belong to a receptor family of ligand-activated transcription factors involved in the regulation of inflammation, cellular glucose uptake, protection against atherosclerosis and endothelial cell function. Through these effects, they might be involved with the ischemic stroke (IS). We recruited 100 IS patients diagnosed by CTs or/and magnetic resonance imaging (MRI) and 100 normal healthy controls from Chinese Uyghur Population to assess the nature of the functional polymorphisms of PPARs and any links with IS in this unique population which has 60% European ancestry and 40% East Asian ancestry. We found that the Ala allele of the PPARγ Pro12Ala polymorphism was more common in controls than IS subjects (P = 0.008, corrected for multiple testing) in the Uyghur Population. Pro/Ala carriage may be associated with a decreased risk of IS in Uyghurs (OR 0.542, 95% CI 0.346-0.850). Additionally, the 162Val allele frequency at the DNA-binding region of PPARα was extremely rare in Chinese Uguhur IS patients and controls. Our population and ethnic-based study demonstrates that the 162Val allele frequency was extremely low in the Chinese Uyghur Population different from Some European and African populations and the PPARγ 12 Pro/Ala resulting in an amino acid exchange in N-terminal sequence may be an independent protective factor for IS in the Chinese Uyghur Population.
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