Genome-Wide association study confirms SNPs in SNCA and the MAPT region as common risk factors for parkinson disease

Todd L. Edwards, William K. Scott, Cherylyn Almonte, Amber Burt, Eric H. Powell, Gary W. Beecham, Liyong Wang, Stephan Züchner, Ioanna Konidari, Gaofeng Wang, Carlos Singer, Fatta Nahab, Burton Scott, Jeffrey M. Stajich, Margaret Pericak-Vance, Jonathan Haines, Jeffery M. Vance, Eden R. Martin

Research output: Contribution to journalArticlepeer-review

329 Scopus citations


Parkinson disease (PD) is a chronic neurodegenerative disorder with a cumulative prevalence of greater than one per thousand. To date three independent genome-wide association studies (GWAS) have investigated the genetic susceptibility to PD. These studies implicated several genes as PD risk loci with strong, but not genome-wide significant, associations. In this study, we combined data from two previously published GWAS of Caucasian subjects with our GWAS of 604 cases and 619 controls for a joint analysis with a combined sample size of 1752 cases and 1745 controls. SNPs in SNCA (rs2736990, p-value = 6.7 × 10-8; genome-wide adjusted p = 0.0109, odds ratio (OR) = 1.29 [95% CI: 1.17-1.42] G vs. A allele, population attributable risk percent (PAR%) = 12%) and the MAPT region (rs11012, p-value = 5.6 × 10-8; genome-wide adjusted p = 0.0079, OR = 0.70 [95% CI: 0.62-0.79] T vs. C allele, PAR% = 8%) were genomewide significant. No other SNPs were genome-wide significant in this analysis. This study confirms that SNCA and the MAPT region are major genes whose common variants are influencing risk of PD.

Original languageEnglish (US)
Pages (from-to)97-109
Number of pages13
JournalAnnals of Human Genetics
Issue number2
StatePublished - Mar 2010


  • Alpha-Synuclein
  • Association study
  • Microtubule associated protein tau
  • Parkinson disease

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics


Dive into the research topics of 'Genome-Wide association study confirms SNPs in SNCA and the MAPT region as common risk factors for parkinson disease'. Together they form a unique fingerprint.

Cite this