Table 1.
PDB GWAS variants demonstrating significant eQTL associations in the osteoclast-like cells.
| Variant | Location | EA | OA | EAF | PDB OR (95% CI) | Gene | Expressiona | Distance to TSS | P | Betab |
|---|---|---|---|---|---|---|---|---|---|---|
| rs4294134 | chr7:135608380 | G | A | 0.82 | 1.45 (1.29–1.63) | STMP1 | 10.44 ± 1.71 | −54,116 | 3.11E-08 | 0.739 |
| rs2458413 | chr8:104347204 | T | C | 0.56 | 1.40 (1.29–1.51) | DPYS | 0.21 ± 0.16 | −119,850 | 2.27E-04 | −0.396 |
| rs2458413 | chr8:104347204 | T | C | 0.56 | 1.40 (1.29–1.51) | DCSTAMP | 110.75 ± 43.60 | 8,117 | 1.76E-05 | 0.468 |
EA: effect allele; OA: other allele; EAF: effect allele frequency (derived from osteoclast eQTL cohort); PDB: Paget’s disease of bone; OR: odds ratio; CI: confidence interval; TSS: transcription start site; variant locations obtained from dbSNP build 150 (GRCh38/hg38); PDB odds ratios obtained from Albagha et al.12. The eQTL associations are statistically significant using a multiple testing corrected FDR of 5% (analysis corrected for the covariates RNA-Seq batch, patient age and 10 principal components).
aExpression levels are stated as mean reads per kilobase million (RPKM) ± standard deviation.
bNormalised effect size on gene expression for the effect allele.