Table 2. SNPs significantly (P < 5 × 10−8) associated with CSF PGRN levels.
CHR | SNP |
LD (r2) |
BP (GRCh37) |
Alt |
Observed MAF |
Source |
Closest gene |
SNP location |
Regulome DB score* |
P values† | |||
P1 | P2 | P3 | P4 | ||||||||||
17 | rs708384‡ | 1 | 42437682 | A | 0.4074 | Genotyping | FAM171A2 |
Intron (TF binding site) |
5 | 5.09 × 10−12 | 0.0002 | 0.0002 | … |
17 | rs708383‡ | 1 | 42437754 | A | 0.4074 | Imputation | FAM171A2 | Intron | 5 | 5.09 × 10−12 | 0.0002 | 0.0002 | … |
17 | rs34603233 | NA | 42455022 | T | 0.4201 | Imputation | ITGA2B | Intron | 5 | 6.48 × 10−12 | 0.0002 | 0.0002 | 0.4561 |
17 | rs850730 | 0.89 | 42454463 | C | 0.4213 | Imputation | ITGA2B | Intron | 5 | 1.90 × 10−11 | 0.0002 | 0.0002 | 0.8554 |
17 | rs850729 | 0.88 | 42454806 | T | 0.4213 | Imputation | ITGA2B | Intron | NA | 1.90 × 10−11 | 0.0002 | 0.0002 | 0.8554 |
17 | rs850736 | 0.93 | 42446420 | C | 0.4225 | Imputation | ITGA2B | NA | NA | 2.47 × 10−11 | 0.0002 | 0.0002 | 0.9572 |
17 | rs850734 | 0.91 | 42449025 | G | 0.4225 | Imputation | ITGA2B | NA | 5 | 2.47 × 10−11 | 0.0002 | 0.0002 | 0.9572 |
17 | rs5910 | 0.90 | 42449789 | A | 0.4225 | Genotyping | ITGA2B | Synonymous | 5 | 2.47 × 10−11 | 0.0002 | 0.0002 | 0.9572 |
17 | rs35905006 | NA | 42451281 | C | 0.4225 | Imputation | ITGA2B | Intron | 6 | 2.47 × 10−11 | 0.0002 | 0.0002 | 0.9572 |
17 | rs850733 | 0.89 | 42451305 | A | 0.4225 | Imputation | ITGA2B | Intron | NA | 2.47 × 10−11 | 0.0002 | 0.0002 | 0.9572 |
17 | rs5911 | 0.89 | 42453065 | C | 0.4225 | Imputation | ITGA2B | Missense | 2b | 2.47 × 10−11 | 0.0002 | 0.0002 | 0.9572 |
17 | rs850732 | 0.89 | 42454243 | T | 0.4225 | Imputation | ITGA2B | Intron | NA | 2.47 × 10−11 | 0.0002 | 0.0002 | 0.9572 |
17 | rs708382 | 0.86 | 42442344 | C | 0.4340 | Genotyping | FAM171A2 | NA | 6 | 2.91 × 10−11 | 0.0002 | 0.0002 | 0.7185 |
17 | rs850737 | 0.86 | 42443784 | C | 0.4340 | Imputation | FAM171A2 | NA | 5 | 2.91 × 10−11 | 0.0002 | 0.0002 | 0.7185 |
17 | rs850738 | 0.73 | 42434630 | G | 0.4317 | Imputation | FAM171A2 | Intron | NA | 4.89 × 10−11 | 0.0002 | 0.0004 | 0.2513 |
17 | rs11389756 | NA | 42448210 | AG | 0.4699 | Imputation | ITGA2B | NA | 6 | 3.62 × 10−11 | 0.0002 | 0.0022 | 0.6897 |
17 | rs850731 | 0.71 | 42454270 | C | 0.4699 | Imputation | ITGA2B | Intron | 5 | 3.62 × 10−11 | 0.0002 | 0.0022 | 0.6897 |
17 | rs5848 | 0.60 | 42430244 | T | 0.3275 | Imputation | GRN | 3′-UTR | 5 | 1.22 × 10−11 | 0.0002 | 0.0074 | 0.6925 |
*Lower scores indicate increasing evidence for a variant to be located in a functional region (www.regulomedb.org).
†P1 = P value for GWAS; P2 = empiric P value; P3 = permutation-based corrected empiric familywise error rate; P4 = empiric P value after controlling for rs708384
‡rs708383 is in complete LD with rs708384 (r2 = 1) according to the HaploRegv4.1 online database.