| Geno
|
Mag
|
Summary
|
| (A;G)
|
3.1
|
3 fold increase in risk for Parkinson's disease
|
| (G;G)
|
0
|
common/normal
|
rs45478900, also known as c.1231G>A, Gly411Ser or G411S, is a rare mutation in the PINK1 gene on chromosome 1.
A 2016 study of a total of about 7,000 Parkinson's disease patients concluded that carrying a single rs45478900(A) allele increases the odds of developing the disease about 3-fold (p < 0.03). Based on inheritance patterns as well as functional studies, the authors postulate that G411S is a "rare genetic risk factor with a relatively large effect size conferred by a partial dominant-negative function phenotype". The study also showed Parkinson's disease could develop earlier (at about age 55) in G411S carriers compared to the age of onset (~65 years) in the common, nonfamilial forms of Parkinson's.dx.doi.org/10.1093/brain/aww261
