Table 1.
CYP2A6 wGRS variants’ effect sizes on the phenotypic biomarker in the NMR dataset.
| CYP2A6 wGRS variants (El-Boraie et al. [22]) | Effect Allele | Other Allele | EAF in the NMR dataset | Weight per effect allele | Variants/proxy variants available in the UK Biobank | Effect Allele | Other Allele | EAF in the NMR dataset | EAF in the UK Biobank | Weight per effect allele | LD R2 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs56113850 | C | T | 0.562 | 0.135 | rs56113850 | C | T | 0.562 | 0.575 | 0.135 | 0.814 |
| rs2316204 | T | C | 0.649 | 0.080 | rs2644891 | C | T | 0.674 | 0.680 | 0.079 | 0.988 |
| rs113288603 | T | C | 0.087 | −0.025 | rs61663607 | C | T | 0.087 | 0.080 | −0.025 | 0.956 |
| *9 (rs28399433) | C | A | 0.063 | −0.159 | rs76112798 | T | C | 0.064 | 0.064 | −0.160 | – |
| *2 (rs1801272) | T | A | 0.025 | −0.250 | rs1801272 | T | A | 0.025 | 0.022 | −0.250 | – |
| *12 | CYP2A6/2A7 hybrid | – | 0.022 | −0.272 | rs28399442a | A | C | 0.022 | 0.021 | −0.249 | – |
| *4 | (CYP2A6 Deletion)b | – | 0.009 | −0.350 | – | – | – | – | – | – | – |
wGRS: weighted Genetic Risk Score; NMR: Nicotine Metabolite Ratio; EAF: Effect Allele Frequency; UK: United Kingdom; LD: Linkage Disequilibrium. R2 was obtained from NIH’s LDlink open-source tool to determine the degree of concordance between proxy (UK Biobank) variants and original variants included in the CYP2A6 wGRS.
aConcordance confirmed by PCR assay (Bloom et al. [76]).
bNot available in genotyped or imputed UK Biobank data.