Fig. 1: Genome-wide association study (GWAS) on age at onset (AAO) in X-linked dystonia-parkinsonism (XDP) patients.
From: Identifying genetic modifiers of age-associated penetrance in X-linked dystonia-parkinsonism
a Manhattan plot of the XDP AAO GWAS. We estimated a series of linear regression models assuming SNPs with a p-value below 5 × 10−8 to be significantly associated with AAO adjusted for repeat number. Using this approach, we identified 93 candidate SNPs to cover a potential genetic modifier influencing AAO. b, c Locus zoom plot of the GWAS data. The structure of linkage disequilibrium and –log10 (p-value) of the identified loci on chromosomes 5 and 7, respectively. Genomic coordinates are given according to GRCh37. Red lines: p = 5 × 10−8; Mb: megabase; each dot: −log10 (p-value) of a SNP; r2: the Pearson coefficient of correlation between any SNP in the graph and the SNP with the lowest p-value in that region. Source data are provided as a Source data file.
