TABLE 4.
Co‐localization analysis between CSF and plasma aptamers in Europeans.
| Plasma Gene | Plasma Aptamer | Plasma Hit | CSF Gene | CSF Aptamer | CSF Hit | Number of Variants | PP.H4 |
|---|---|---|---|---|---|---|---|
| APOE | X2938.55 | chr19:44913034:C:T | APOE | X2938.55 | chr19:44908684:T:C | 3112 | 0.031 |
| APOE | X5312.49 | chr19:44908684:T:C | 3112 | 0.018 | |||
| NfL | X10082.251 | chr19:44908684:T:C | 3112 | 0.018 | |||
| NRGN | X18303.39 | chr19:44888997:C:T | 3071 | 0.006 | |||
| VILIP‐1 | X13522.20 | chr19:44919589:G:A | 3090 | 0.004 | |||
| X5312.49 | chr19:44908822:C:T | APOE | X2938.55 | chr19:44908684:T:C | 3128 | 0.008 | |
| APOE | X5312.49 | chr19:44908684:T:C | 3128 | 0.000 | |||
| NfL | X10082.251 | chr19:44908684:T:C | 3128 | 0.000 | |||
| NRGN | X18303.39 | chr19:44888997:C:T | 3087 | 0.000 | |||
| VILIP‐1 | X13522.20 | chr19:44919589:G:A | 3076 | 0.000 | |||
| GRN | X4992.49 | chr17:44352876:C:T | GRN | X4992.49 | chr17:44352876:C:T | 2192 | 1.000 |
| NFL | X10082.251 | chr19:44908684:T:C | APOE | X2938.55 | chr19:44908684:T:C | 3129 | 1.000 |
| APOE | X5312.49 | chr19:44908684:T:C | 3129 | 1.000 | |||
| NFL | X10082.251 | chr19:44908684:T:C | 3129 | 1.000 | |||
| NRGN | X18303.39 | chr19:44888997:C:T | 3088 | 0.997 | |||
| VILIP‐1 | X13522.20 | chr19:44919589:G:A | 3074 | 0.997 | |||
| SNAP‐25 | X13105.7 | chr14:94318281:C:T | SNAP‐25 | X13105.7 | chr14:94378225:C:T | 3727 | 0.994 |
| TREM2 | X5635.66 | chr11:60254475:G:A | TREM2 | X11851.21 | chr11:60177107:C:T | 2663 | 0.999 |
| TREM2 | X16300.4 | chr11:60177107:C:T | 2663 | 0.984 | |||
| TREM2 | X5635.66 | chr11:60177107:C:T | 2663 | 0.874 | |||
| X11851.21 | chr11:60254475:G:A | TREM2 | X11851.21 | chr11:60177107:C:T | 2663 | 0.999 | |
| TREM2 | X16300.4 | chr11:60177107:C:T | 2663 | 0.984 | |||
| TREM2 | X5635.66 | chr11:60177107:C:T | 2663 | 0.874 | |||
| X16300.4 | chr6:41161469:C:T | TREM2 | X11851.21 | chr6:41161395:C:T | 3426 | 0.037 | |
| TREM2 | X16300.4 | chr6:41161469:C:T | 3426 | 1.000 | |||
| TREM2 | X5635.66 | chr6:40974457:G:A | 2842 | 0.484 | |||
| chr11:60254475:G:A | TREM2 | X11851.21 | chr11:60177107:C:T | 2663 | 0.999 | ||
| TREM2 | X16300.4 | chr11:60177107:C:T | 2663 | 0.984 | |||
| TREM2 | X5635.66 | chr11:60177107:C:T | 2663 | 0.874 | |||
| YKL‐40 | X11104.13 | chr1:203183049:C:T | YKL‐40 | X11104.13 | chr1:203183673:T:C | 2766 | 0.996 |
Note: This table shows the posterior probabilities that a causal variant was shared between plasma and CSF in loci that were prioritized in both plasma and CSF. The PP.H4 column contains the prior probability that two phenotypes share a causal gene hit based on a coloc.abf analysis. Co‐localization analysis was performed between a plasma and CSF sentinel variant if they were within 1 Mb of each other. Values highlighted with bold are statistically significant at a PP.H4 ≥ 0.8. The AD top association data were derived from Bellenguez et al., 2022. All participants were European based on principal component analysis. CSF n = 3107; Plasma n = 2317.
Abbreviations: AD, Alzheimer's disease; CSF, cerebrospinal fluid; NFL, neurofilament light; NRGN, neurogranin; PP.H4, posterior probability of sharing causative variant; SNAP‐25, synaptosomal‐associated protein 25; TREM2, triggering receptor expressed on myeloid cells 2; YKL‐40, chitinase‐3‐like protein 1; VILIP, visinin‐like protein 1.