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Novel approach identifies novel Parkinson's disease loci
| Study: | Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease. |
| By: | Do C.B. et al. (12 authors total) |
| In: | PLoS Genetics |
| Link: | http://dx.doi.org/10.1371/journal.pgen.1002141 |
To identify genetic variation associated with Parkinson’s disease in individuals of European ancestry.
The researchers from genetic testing company 23andMe conducted a genome-wide association study (GWAS) in 3,426 patients and 29,624 controls. Interestingly, this study took place ‘online’, with patients recruited through patient groups and tertiary clinics into the 23andMe database with controls coming from the existing customer database. Patients were clinically diagnosed and provided additional information via a web-based survey.
Two novel associations were identified near the SCARB2 gene on chromosome 4 and SREBF1/RAI1 on chromosome 17. A further six previously identified loci were also replicated with an additional three loci close to a genome-wide significance level. Results were validated in two independent cohorts.
This study used a novel web-based enrolment to conduct a large-scale GWAS, which resulted in the identification of two novel loci associated with Parkinson’s disease as well as the replication of several known loci. The authors suggest that the results provide support for their novel methodology as well as estimating a sizeable genetic contribution underlying Parkinson’s disease.
Initially launched two years ago (see previous news), this study used web-based enrolment and self-reported phenotype data as well as utilising the 23andMe customer database to provide a control population. The authors acknowledge that using self-reported phenotype data is not without its problems, and that the population enroled was biased towards one with a higher socioeconomic status, although they believe that these ascertainment biases would not substantially affect the conclusions unless they differed between the patients and controls (which they do not believe to be the case). The study recruited nearly 3,500 patients and 30,000 controls in 18 months without the need for large-scale multinational collaborations, suggesting that this type of study design may have merit in significantly increasing power and robustness if designed carefully.