Objectives: The common sequence variants of neuropeptide Y (NPY) were known to be associated with some kinds of diseases including stroke. This study investigated the association of NPY promoter polymorphism, C-399T, with ischemic stroke and its underlying mechanism using in vitro systems.
Design and methods: Study subjects consisted of 444 ischemic stroke patients and 326 controls without stroke. C-399T genotyping was conducted by a primer extension-based method. Plasma NPY was quantified with an enzyme immunoassay, and transcription characteristics were investigated by a reporter gene assay and an enzyme mobility shift assay.
Results: A significantly lower frequency of TT genotype was observed in a stroke group (OR[95% CI], 0.399[0.187-0.854], p=0.0180). The C-399T polymorphism affected the transcription efficiency of NPY gene and its genotypes were related to the changes in plasma NPY levels.
Conclusion: This study suggests that NPY promoter polymorphism, C-399T, should be considered a genetic risk factor for ischemic stroke.