| Geno
|
Mag
|
Summary
|
| (C;C)
|
0
|
common in clinvar
|
| (C;T)
|
2.5
|
Slightly (~2x) higher risk of Parkinson's disease mutation, at least in Asians according to some studies
|
rs34594498, also known as c.1256C>T, p.Ala419Val and A419V, represents a variant in the LRRK2 gene on chromosome 12.
The minor allele of this variant has been reported in some studies - and not others - to increase risk (by about 2x) for Parkinson's disease, primarily in studies of Asians. Some of the studies confirming or refuting this variant's role include:
Reporting an association:
- [PMID 26234753] 2015 study reports a ~2x higher risk for PD in Chinese patients and based on meta-analysis;
- [PMID 21885347
] 2011 study reports a ~2x higher risk for PD in Asian patients (but not Caucasians)
Finding no association:
- [PMID 23771111] 2013 study of ~400 Chinese, Malays and Indians finds no association
- [PMID 23182315] 2012 study of ~600 Taiwenese PD patients reported no association
- [PMID 22807999] 2012 study of ~1,500 Chinese PD patients reported no association
[PMID 16633828] A common missense variant in the LRRK2 gene, Gly2385Arg, associated with Parkinson's disease risk in Taiwan. Note that this 2006 study concluded that Ala419Val was a "disease-unrelated polymorphism".
