Table 2.
Suggestive genomic loci for sNfL measures in BiDirect and the meta-analysis with ASPS-Fam.
| Locus | Index variant | Alleles | Chr | Index BP | Index P | Index effect | Start (BP) | End (BP) | # Variants | #Ind.Sig. Variants | Ind.Sig. Variants | #Lead variants | Lead variants | Genes (protein-coding) |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Discovery GWAS (BiDirect; N = 1,899) | ||||||||||||||
| 1 | rs76037384 | T/A | 2 | 125357776 | 2.17E-06 | + | 125357776 | 125403277 | 23 | 1 | rs76037384 | 1 | rs76037384 | CNTNAP5 |
| 2 | rs12674781 | C/T | 8 | 1377915 | 9.64E-06 | + | 1356333 | 1378411 | 25 | 1 | rs12674781 | 1 | rs12674781 | - |
| 3 | rs184931198 | C/T | 8 | 18210838 | 2.90E-06 | + | 17954598 | 18218371 | 10 | 2 | rs184931198, rs73198093 | 1 | rs184931198 | NAT1, NATP |
| 4 | rs142838371 | G/A | 8 | 98741426 | 6.88E-06 | + | 98656430 | 98741426 | 5 | 1 | rs142838371 | 1 | rs142838371 | MTDH |
| 5 | rs34372929 | AT/A | 8 | 104596668 | 8.87E-06 | + | 104530581 | 104718242 | 7 | 1 | rs34372929 | 1 | rs34372929 | RIMS2 |
| 6 | rs62576696 | A/G | 9 | 118311682 | 2.15E-06 | + | 118167915 | 118488131 | 100 | 2 | rs62576696, rs12380012 | 2 | rs62576696, rs12380012 | - |
| 7 | rs1842909 | C/G | 11 | 18918227 | 9.10E-06 | + | 18873142 | 18939666 | 25 | 1 | rs1842909 | 1 | rs1842909 | - |
| 8 | rs146801204 | T/C | 12 | 117050196 | 4.07E-06 | – | 117039399 | 117060536 | 10 | 1 | rs146801204 | 1 | rs146801204 | - |
| 9 | rs76207901 | G/T | 13 | 42524241 | 7.12E-06 | + | 42388330 | 42524241 | 3 | 1 | rs76207901 | 1 | rs76207901 | VWA8 |
| 10 | rs1514928 | C/A | 14 | 62678303 | 1.29E-06 | + | 62669677 | 62678303 | 3 | 1 | rs1514928 | 1 | rs1514928 | - |
| 11 | rs8060528 | C/T | 16 | 7024428 | 7.69E-07 | – | 7011164 | 7038560 | 34 | 1 | rs8060528 | 1 | rs8060528 | RBFOX1 |
| 12 | rs74607435 | T/C | 19 | 45235700 | 5.21E-06 | + | 45235700 | 45235700 | 1 | 1 | rs74607435 | 1 | rs74607435 | - |
| Meta-analysis (BiDirect + ASPS-Fam; N = 2,186) | ||||||||||||||
| 1 | rs34523114 | A/AT | 2 | 74131786 | 6.75E-06 | – – | 74127289 | 74140230 | 42 | 1 | rs34523114 | 1 | rs34523114 | ACTG2, TPRKBa |
| 2 | rs114956339 | G/A | 5 | 118578014 | 5.88E-06 | + + | 118365512 | 118595407 | 4 | 1 | rs114956339 | 1 | rs114956339 | DMXL1 |
| 3 | rs529938 | T/T | 5 | 177961577 | 4.61E-06 | + + | 177959285 | 177963534 | 21 | 1 | rs529938 | 1 | rs529938 | COL23A1 |
| 4 | rs73198093 | G/C | 8 | 17954598 | 6.81E-06 | + + | 17954598 | 18107883 | 8 | 1 | rs73198093 | 1 | rs73198093 | NAT1 |
| 5 | rs34372929 | AT/A | 8 | 104596668 | 8.20E-06 | + + | 104530581 | 104718242 | 5 | 1 | rs34372929 | 1 | rs34372929 | RIMS2 |
| 6 | rs10982883 | T/C | 9 | 118461688 | 7.14E-06 | + + | 118450617 | 118488131 | 40 | 1 | rs10982883 | 1 | rs10982883 | - |
| 7 | rs1842909 | G/C | 11 | 18918227 | 5.89E-06 | + + | 18873142 | 18939666 | 24 | 1 | rs1842909 | 1 | rs1842909 | - |
sNfL, serum neurofilament light chain; Chr, chromosome; BP, base pair; Ind.Sig.Variants, individual significant variants.
Loci were defined using FUMA GWAS (LD block r2 ≥ 0.6, window 500 kb, lead variant p < 1e−5, clumped variant p < 0.05).
aeQTL effects of variants in the locus according to the BRAINEAC dataset. #means “number of”.