Table 1.
Significantly associated structural variants in the LBD and FTD/ALS GWAS analyses
| Chr | Position | Gene | Type | Length (bp) | MAF cases | MAF controls | p value | OR (95% CI) | |
|---|---|---|---|---|---|---|---|---|---|
| LBD | 12 | 113,245,316 | TPCN1 | deletion | 309 | 0.075 | 0.052 | 9.10 × 10−6 | 1.43 (1.22–1.67) |
| FTD/ALS | 9 | 27,573,524 | C9orf72 | unresolveda | NA | 0.032 | 0.0018 | 4.99 × 10−18 | 14.47 (7.90–26.49) |
| FTD/ALS | 17 | 45,603,799 | MAPT | complex inversion | 673,211 | 0.17 | 0.19 | 3.48 × 10−6 | 0.77 (0.68–0.86) |
The Bonferroni threshold of significance was 1.02 × 10−5 (= 0.05/4,889 structural variants with an MAF ≥ 1%) for the LBD GWAS and 1.06 × 10−5 (=0.05/4,699) for the FTD/ALS GWAS. Chromosome positions are displayed according to reference genome build hg38. Chr, chromosome; LBD, Lewy body dementia; FTD, frontotemporal dementia; ALS, amyotrophic lateral sclerosis; bp, base pairs; MAF, minor allele frequency; OR, odds ratio; CI, confidence interval; NA, not applicable.
a
Confirmed to refer to the hexanucleotide repeat expansion in the C9orf72 gene.