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[Preprint]. 2024 Apr 23:2024.04.22.24306094. [Version 1] doi: 10.1101/2024.04.22.24306094

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 pQTL 0.56 0.89* 0.05 0.02 0.12 0.05 0.03 0.01
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 Whole blood eQTL 0.23 0.20 0.39 0.03 0.06 0.07 0.03 0.02 0.19 0.05 0.02 0.02 0.92* 0.01 0.02 0.01
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 across datasets & tissues 1 4 10 12 1 2 1 1 1 6 17 1 2 10 1 2 1 2
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.