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

2008

Study of Genes Related to Cholesterol and Sudden Cardiac Death

Sample size: 300 publication Evidence: moderate

Author Information

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

Primary Institution: Tampere University Hospital and Medical School, University of Tampere, Tampere, Finland

Hypothesis

Are the allelic variants of SREBF-2 and SCAP associated with sudden cardiac death in middle-aged men?

Conclusion

The study suggests that certain genetic variants may increase the risk of sudden cardiac death in early middle-aged men.

Supporting Evidence

Down-regulation of SREBF-2 was observed in atherosclerotic carotid plaques compared to non-atherosclerotic tissues.
Men with the SREBF-2 C allele and SCAP G allele had a significantly increased risk of sudden cardiac death.
Logistic regression analysis showed a significant interaction between SREBF-2 and SCAP genotypes on the risk of sudden cardiac death.

Takeaway

This study looked at how certain genes related to cholesterol might affect the risk of heart problems in men who died suddenly.

Methodology

Whole genome expression profiling was conducted on vascular samples from atherosclerotic plaques and control tissues, and genetic variants were analyzed in a cohort of sudden cardiac death victims.