Table 4.
Single nucleotide variants identified by GWAS associated with suPAR
| Unconditioned analysis | Stepwise conditional analysis | MAF (1000 Genomes) | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
| |||||||||||||
| SNV | Annotation | Chr | build37 | A1/A2 | MAF (JHS) |
p-value | β | 95% CI | p-value | β | 95% CI | Afr. | Eur. |
| rs399145 (Signal A) | p.Thr86Ala, PLAUR | 19 | 44169522 | T/C | 0.11 | 2.0×10−78 | 0.73 | 0.65, 0.81 | - | - | - | 0.12 | 0.00 |
| rs73935023 (Signal B) | intronic, PLAUR | 19 | 44178955 | T/C | 0.04 | 1.1×10−16 | −0.55 | −0.69, −0.41 | 2.3×10−14 | −0.50 | −0.64, −0.36 | 0.03 | 0.00 |
| rs4251805 (Signal C) | 5’ UTR, PLAUR | 19 | 44174441 | C/T | 0.08 | 1.8×10−14 | −0.36 | −0.46, −0.26 | 8.6×10−13 | −0.34 | −0.44, −0.24 | 0.09 | 0.03 |
| rs4760 (Signal D) | p.Leu317Pro, PLAUR | 19 | 44153100 | A/G | 0.03 | 3.9×10−04 | 0.27 | 0.11, 0.43 | 2.5×10−06 | 0.36 | 0.20, 0.52 | 0.00 | 0.16 |
Single nucleotide variants (SNVs) associated with suPAR before (unconditioned analysis) and after stepwise, forward-selection conditional analysis in participants of the Jackson Heart Study using ELISA-based suPAR levels (n=3492). Beta values and 95% confidence intervals (CI) represent the change in # of SD units of ln-transformed suPAR associated with a single copy of the minor (A2) allele. Minor allele frequencies (MAFs) are for Jackson Heart Study (JHS) participants, as well as African (Afr) and European (Eur) ancestry individuals in 1000 Genomes Phase 1. Chr, chromosome; UTR, untranslated region.