Table 3.
Loci from a hematuria genome-wide association study using deCODE data were replicated (9)
| Gene or Loci | deCODE | UK Biobank | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Minor Allele | Minor Allele Frequency | P Value | Odds Ratio | 95% Confidence Interval | Phenotype | Variant | Minor Allele | Minor Allele Frequency | P Value | Odds Ratio | 95% Confidence Interval | |
| Previously published by deCODE (9) | |||||||||||||
| COL4A3 | Gly695Arg | A | 0.0003 | <0.001 | 5.46 | 2.94 to 10.16 | ≥++ versus − | Gly695Arg | A | 0.00021 | <0.001 | 45.5 | 11.8 to 168 |
| COL4A3 | 2.5-kb deletion (Gly289_Lys330del) | — | 0.0006 | <0.001 | 11.78 | 7.26 to 19.11 | ≥++ versus − | Not examined | — | — | — | — | — |
| COL4A3 | rs760545501 | T | 0.0017 | <0.001 | 2.36 | 1.80 to 3.09 | ≥++ versus − | Not examined | — | — | — | — | — |
| TGFB1 | rs56254331 | C | 0.18 | <0.001 | 0.92 | 0.89 to 0.94 | ≥+ versus − | rs56254331 | C | 0.17 | <0.001 | 0.89 | 0.86 to 0.91 |
| MHC | Chr 6:31271845(hg38) HLA-C | C | 0.43 | <0.001 | 0.92 | 0.90 to 0.94 | ≥+ versus − | HLA-B*08:01 | — | 0.14 | <0.001 | 0.84 | 0.82 to 0.88 |
| Not previously reported by deCODE | |||||||||||||
| SORL1 | rs618048 | T | 0.15 | <0.001 | 1.08 | 1.05 to 1.11 | ≥+ versus − | rs618048 | T | 0.22 | <0.001 | 1.10 | 1.08 to 1.11 |
| PDPN | rs2885134 | G | 0.03 | 0.006 | 1.09 | 1.02 to 1.15 | ≥++ versus − | rs2885134 | G | 0.029 | <0.001 | 1.22 | 1.14 to 1.31 |
| PLLP | rs948705 | G | 0.14 | <0.001 | 0.93 | 0.90 to 0.96 | ≥+ versus − | rs948705 | G | 0.15 | <0.001 | 0.91 | 0.89 to 0.92 |
Variants, minor allele frequencies, odds ratios, and 95% confidence intervals at associated loci are shown. Reported odds ratios refer to the minor allele. Hematuria is defined in deCODe by dipstick and quantitated as ≥+ or ≥++. —, minor allele (allele with frequency <50%).