Abstract
Whole genome screening is increasingly used to identify genetic risk factors for complex diseases. In this study, a genome wide linkage disequilibrium (LD) screen was performed in a cohort of Parkinson’s disease (PD) patients from the UK (n = 195) using pooled DNA to facilitate efficient genotyping of 5546 microsatellite markers. Allele frequencies were compared with those found in 2 previously typed disease free control populations, and the most interesting markers were selected for multiple repeat testing among the 3 pools. Markers were then individually genotyped in our original PD cohort and one of the original control groups, and independently in a second cohort of UK PD patients (n = 179), and additional controls.
Using this 2–stage approach, we have been unable to find evidence for consistent association of any markers with sporadic PD. Subgroup analysis of the most promising marker shows some evidence that microsatellite marker D1S2886 is associated with familial forms of the disease.
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Foltynie, T., Hicks, A., Sawcer, S. et al. A genome wide linkage disequilibrium screen in Parkinson’s disease. J Neurol 252, 597–602 (2005). https://doi.org/10.1007/s00415-005-0686-2
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DOI: https://doi.org/10.1007/s00415-005-0686-2