Investigating The Genetics Associated With Stroke

Our laboratory is engaged in research into the genetic causes of stroke in particular and cardiovascular disease in general. We have dedicated stroke populations (in excess of 1000 cases and 1000 controls) at our disposal and also collections of community populations (in excess of 4000 individuals) in whom a number of measures of intermediate phenotypes and cardiovascular risk factors such as hypertension and carotid artery intima media thickness are known.

These populations will be used in both case control and genetic association studies to investigate polymorphisms of interest and their effects on risk of cardiovascular disease. We have access to in house genetic sequencers (ABI 3100’s), Pyrosequencing facilities for fluorescent genotyping, a light-typer for melting curve analysis and standard laboratory equipment to test for variants by techniques such as RFLP and insertion / deletion detection.

In addition to these hands on applications students will also be able to investigate data sets statistically using dedicated computer software for statistical analysis, and learn to interrogate databases such as the HAPMAP and NCBI’s SNP database to gain an understanding of how such studies are planned from their inception through to analysis.

Other techniques undertaken within the laboratory include ELISA to determine plasma levels of biomarkers and cell stimulation studies to investigate biomarker production from a diverse range of samples.

References:

Gormley K, Bevan S, Markus HS.Polymorphisms in genes of the rennin-angiotensin system and cerebral small vessel disease.Cerebrovasc Dis.2007;23:148-155.

Abilleira S, Bevan S, Markus HS. The role of genetic variants of matrix metalloproteinases in coronary and carotis atherosclerosis. J Med Genet.2006;43:897-901.