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Expression of sterol regulatory element-binding transcription factor (SREBF) 2 and SREBF cleavage-activating protein (SCAP) in human atheroma and the association of their allelic variants with sudden cardiac death.

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Author

  • Yue-Mei Fan
  • Pekka J Karhunen
  • Mari Levula
  • Erkki Ilveskoski
  • Jussi Mikkelsson
  • Olli A Kajander
  • Otso Järvinen
  • Niku Oksala
  • Janita Thusberg
  • Mauno Vihinen
  • Juha-Pekka Salenius
  • Leena Kytömäki
  • Juhani T Soini
  • Reijo Laaksonen
  • Terho Lehtimäki
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Summary, in English

Disturbed cellular cholesterol homeostasis may lead to accumulation of cholesterol in human atheroma plaques. Cellular cholesterol homeostasis is controlled by the sterol regulatory element-binding transcription factor 2 (SREBF-2) and the SREBF cleavage-activating protein (SCAP). We investigated whole genome expression in a series of human atherosclerotic samples from different vascular territories and studied whether the non-synonymous coding variants in the interacting domains of two genes, SREBF-2 1784G>C (rs2228314) and SCAP 2386A>G, are related to the progression of coronary atherosclerosis and the risk of pre-hospital sudden cardiac death (SCD).

Publishing year

2008

Language

English

Publication/Series

Thrombosis Journal

Volume

6

Document type

Journal article

Publisher

BioMed Central (BMC)

Topic

  • Medical Genetics

Status

Published

ISBN/ISSN/Other

  • ISSN: 1477-9560