TABLE 1.
The most significant pLELC-associated variations identified in the GWAS
| Position | Risk allele | Non-risk allele | % in pLELCa | % in controlb | Or (95% CI) | P-valuec | Annotation |
|---|---|---|---|---|---|---|---|
| 5399 | A | G | 0.94 | 0.45 | 1.20 (1.15, 1.26) | 4.65 × 10−14 | BNRF1(Val1222Ile) |
| 5850 | T | A | 0.95 | 0.45 | 1.21 (1.16, 1.27) | 7.97 × 10−15 | BNRF1 (3′ UTR) |
| 6484 | T | C | 0.92 | 0.45 | 1.20 (1.14, 1.25) | 4.60 × 10−13 | Between BNRF1 and EBER1 |
| 6584 | G | A | 0.92 | 0.45 | 1.20 (1.14, 1.25) | 4.60 × 10−13 | Between BNRF1 and EBER1 |
| 6866 | A | G | 0.94 | 0.45 | 1.20 (1.15, 1.26) | 4.21 × 10−14 | Between EBER1 and EBER2 |
| 6884 | G | A | 0.94 | 0.45 | 1.20 (1.15, 1.26) | 4.21 × 10−14 | Between EBER1 and EBER2 |
| 6886 | T | G | 0.94 | 0.45 | 1.20 (1.15, 1.26) | 4.21 × 10−14 | Between EBER1 and EBER2 |
| 6911 | A | G | 0.94 | 0.45 | 1.20 (1.15, 1.26) | 1.26 × 10−13 | Between EBER1 and EBER2 |
| 6944 | G | A | 0.95 | 0.45 | 1.21 (1.16, 1.27) | 1.02 × 10−14 | Between EBER1 and EBER2 |
| 6999 | G | T | 0.95 | 0.45 | 1.21 (1.15, 1.27) | 1.21 × 10−14 | EBER2 |
| 7001 | T | A | 0.95 | 0.45 | 1.21 (1.15, 1.27) | 1.21 × 10−14 | EBER2 |
| 7012 | G | A | 0.96 | 0.46 | 1.21 (1.16, 1.27) | 4.67 × 10−15 | EBER2 |
| 7016 | T | A | 0.95 | 0.45 | 1.21 (1.15, 1.27) | 1.21 × 10−14 | EBER2 |
| 7048 | C | A | 0.95 | 0.45 | 1.21 (1.15, 1.27) | 1.21 × 10−14 | EBER2 |
| 7121 | C | CTA | 0.95 | 0.45 | 1.21 (1.16, 1.27) | 1.05 × 10−14 | EBER2 |
| 7134 | C | G | 0.95 | 0.45 | 1.21 (1.15, 1.27) | 1.21 × 10−14 | Between EBER2 and Orip |
| 7187 | A | AAACT | 0.94 | 0.45 | 1.20 (1.15, 1.26) | 4.27 × 10−14 | Between EBER2 and Orip |
| 7206 | A | T | 0.95 | 0.45 | 1.21 (1.15, 1.27) | 1.21 × 10−14 | Between EBER2 and Orip |
| 7213 | C | G | 0.95 | 0.45 | 1.21 (1.15, 1.27) | 1.21 × 10−14 | Between EBER2 and Orip |
| 7233 | A | G | 0.92 | 0.45 | 1.20 (1.14, 1.25) | 5.21 × 10−13 | Between EBER2 and Orip |
| 7262 | A | G | 0.95 | 0.45 | 1.21 (1.15, 1.27) | 1.21 × 10−14 | Between EBER2 and Orip |
| 7297 | T | C | 0.96 | 0.46 | 1.21 (1.16, 1.27) | 4.49 × 10−15 | Between EBER2 and Orip |
| 7327 | C | T | 0.96 | 0.45 | 1.22 (1.16, 1.27) | 2.39 × 10−15 | Orip |
| 11695 | G | T | 0.90 | 0.44 | 1.18 (1.12, 1.24) | 5.65 × 10−10 | BWRF1 (Upstream) |
| 137316 | C | A | 0.92 | 0.43 | 1.20 (1.15, 1.26) | 1.60 × 10−14 | BVRF2 (His560Pro) |
| 140255 | A | G | 0.95 | 0.50 | 1.18 (1.11, 1.25) | 4.65 × 10−08 | BILF2 (Upstream) |
| 140306 | C | T | 0.95 | 0.48 | 1.21 (1.16, 1.27) | 1.75 × 10−14 | BILF2 (Upstream) |
| 155989 | A | G | 0.95 | 0.46 | 1.21 (1.16, 1.27) | 8.87 × 10−15 | BALF5 (Leu100Leu) |
| 161036 | C | T | 0.92 | 0.47 | 1.19 (1.13, 1.25) | 6.63 × 10−12 | BALF2 (Ser1093Gly) |
| 163364 | T | C | 0.91 | 0.44 | 1.20 (1.14, 1.25) | 3.06 × 10−13 | BALF2 (Val317Met) |
| 163464 | A | G | 0.90 | 0.44 | 1.19 (1.13, 1.24) | 2.51 × 10−12 | BALF2 (Ser283Ser) |
| 165087 | C | T | 0.90 | 0.45 | 1.19 (1.13, 1.24) | 2.39 × 10−12 | BARF1 (Cys14Cys) |
a
Frequency of risk alleles in pLELC patients.
b
Frequency of risk alleles in healthy controls.
c
P-value was calculated with a linear mixed model including sex and age as fixed effects and genetic relatedness matrix as random effects.
Abbreviations: OR, odds ratio; CI, confidence interval.