Table 2. Genetic colocalization with quantitative trait locus data.
Colocalization was evaluated for genes in each AD associated locus using a 2Mb window centered on the lead variant. Evidence for colocalization was considered at colocalization posterior probability (PP4)>0.7 (bolded). The table presents PP4 results and is restricted to genes and datasets/tissues where at least one colocalization reached PP4>0.7. As such, the table is partitioned into 4 common variant loci that showed colocalization support. Bolded entries with an asterisk (*) indicate the lead variant was also a significant QTL in the respective data/tissue. Missing entries indicate that no QTL data were available. The total number of times a gene was prioritized (PP4>0.7) is summarized to help identify the most likely causal gene per locus (blue bolded genes and numbers). Overlapping datasets were considered as those where subjects partially or fully overlapped (non-overlapping datasets are separated by dashed lines).
Dataset | Tissue | QTL | SLC9A7 | ZNF280C | ADGRG4 | MTM1 | ||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ENSG00000286306 | KRBOX4 | CHST7 | SLC9A7 | RP2 | JADE3 | UBA1 | ELK1 | ELF4 | AIFM1 | ZNF280C | RBMX2 | FHL1 | MAP7D3 | BRS3 | HTATSF1 | AL683813.2 | MTMR1 | |||
Wingo et al. 2023 (AD Knowledge Portal) | Brain - Dorsolateral prefrontal cortex | eQTL | 0.77* | 0.95* | 0.56 | 0.04 | 0.70* | 0.04 | 0.00 | 0.16 | 0.45 | 0.00 | 0.78* | 0.93* | 0.05 | 0.05 | ||||
CommonMind (eQTL Catalogue) | Brain - Dorsolateral prefrontal cortex | eQTL | 0.88 | 0.04 | 0.92* | 0.86* | 0.07 | 0.07 | 0.93* | 0.04 | 0.05 | 0.12 | 0.09 | 0.29 | 0.13 | 0.92* | 0.04 | 0.03 | 0.16 | |
GTEx | Brain - (9 brain areas) | eQTL | 0.74 | 0.86* | 0.64 | 0.13 | 0.51 | 0.12 | 0.33 | 0.11 | 0.56 | 0.77* | 0.07 | 0.10 | 0.77* | 0.04 | 0.04 | 0.07 | 0.88 | |
GTEx | Other (20 tissues not brain or blood) | eQTL | 0.92 | 0.71 | 0.98* | 0.14 | 0.76 | 0.10 | 0.16 | 0.78* | 0.78* | 0.92* | 0.77 | 0.13 | 0.89* | 0.73 | 0.87* | 0.77 | 0.79 | |
Fairfax et al. 2014 (eQTL Catalogue) | Monocytes (4 conditions) | eQTL | 0.10 | 0.27 | 0.93* | 0.50 | 0.10 | 0.13 | 0.86 | 0.01 | 0.73 | 0.19 | 0.04 | 0.85 | 0.13 | 0.04 | 0.07 | 0.18 | ||
CEDAR (eQTL Catalogue) | Monocytes | eQTL | 0.05 | 0.15 | 0.93* | 0.05 | 0.43 | 0.12 | 0.08 | 0.06 | 0.78* | 0.04 | 0.05 | 0.29 | 0.08 | 0.04 | 0.06 | 0.11 | ||
No. times prioritized in non-overlapping datasets | 1 | 2 | 3 | 4 | 1 | 2 | 1 | 1 | 1 | 3 | 1 | 1 | 2 | 3 | 1 | 1 | 1 | 1 |
Abbreviations: QTL, quantitative trait locus; eQTL, expression quantitative trait locus; pQTL, protein quantitative trait locus; No., number.