Thursday, 11 February 2016

A cumulative genetic risk score predicts progression in Parkinson's disease

Starting to see more of these initiatives... genetic variability clearly underlies at least some, if not a large proportion, of disease heterogeneity. This is not limited to simply getting PD alone but also contributes to the disease course....

Mov Disord. 2016 Feb 8. doi: 10.1002/mds.26505. [Epub ahead of print]
Pihlstrøm L, Morset KR, Grimstad E, Vitelli V, Toft M.


BACKGROUND:
The contribution of genetic variability to clinical heterogeneity in Parkinson's disease is insufficiently understood. We aimed to investigate the effect of cumulative genetic risk on clinical outcomes.

METHODS:
In a single-center study of 336 patients we genotyped 19 independent susceptibility variants identified in genome-wide association studies of Parkinson's disease. We tested for association between a cumulative genetic risk score and 3 outcome measures: survival, time until progression to Hoehn and Yahr stage 3, and Unified Parkinson's Disease Rating Scale motor score severity.

RESULTS:
Genetic risk score was significantly associated with time from diagnosis to Hoehn and Yahr stage 3 in a Cox regression model (P = 0.010). We observed no clear association for the other outcomes.

CONCLUSIONS:

We present results linking cumulative genetic risk to a motor outcome in Parkinson's disease. Our findings provide a valuable starting point for future large-scale efforts to map the genetic determinants of phenotypic variability.

1 comment:

  1. I suggest the genetic variation may be complemented or be associated with variations in the gut population thus starting PD in different ares of the gut.

    ReplyDelete

Mild Parkinsonian Signs in a Community Population

One question that many of the PREDICT-PD participants ask me is “I am slower than I used to be, does it mean that I am getting Parkinson’...