Table 4. Genetic risk analysis in the membranous nephropathy cohort using the lead SNPs from GWAS14, GWAS25 and GWAS36 from the imputed UK Biobank dataset.
| MN | RR (95% CI) | GWAS OR | |||
|---|---|---|---|---|---|
| GWAS14 |
HLADQA1 rs2187668 |
CC | 44/357516 (0.01%) | 1 | |
| CT | 39/118070 (0.03%) | 2.68 (1.74–4.13) | |||
| TT | 14/11622 (0.12%) | 9.79 (5.36–17.85) | |||
| OR Per allele | 3.11 (2.31–4.18) | 4.32 (3.73–5.01) | |||
| PLA2R1 rs4664308 |
GG | 11/81861 (0.01%) | 1 | ||
| AG | 34/230759 (0.02%) | 1.10 (0.56–2.16) | |||
| AA | 52/174588 (0.03%) | 2.22 (1.16–4.25) | |||
| OR Per allele | 1.66 (1.22–2.26) | 2.28 (1.9–2.64) | |||
| GWAS25 |
HLADQA1 rs9272729 |
GG | 44/351417 (0.01%) | 1 | |
| AG | 41/117731 (0.04%) | 2.78 (1.82–4.26) | |||
| AA | 12/10747 (0.11%) | 8.92 (4.71–16.88) | |||
| OR Per allele | 2.99 (2.17–4.11) | 6.86 (4.55–10.3) | |||
| PLA2R1 rs17830558 |
GG | 22/138318 (0.02%) | 1 | ||
| TG | 40/228842 (0.02%) | 1.10 (0.65–1.85) | |||
| TT | 33/105620 (0.03%) | 1.96 (1.15–3.37) | |||
| OR Per allele | 1.44 (1.08–1.90) | 1.63 (1.23–2.15) | |||
| GWAS36 | HLADRB1/DQA1 rs9271573 |
CC | 24/170192 (0.01%) | 1 | |
| AC | 41/234411 (0.02%) | 1.24 (0.75–2.05) | |||
| AA | 32/82375 (0.04%) | 2.75 (1.62–4.68) | |||
| OR per allele | 1.70 (1.28–2.25) | 2.41 (2.26–2.57) | |||
| PLA2R1 rs17831251 |
TT | 11/80771 (0.014%) | 1 | ||
| CT | 33/227843 (0.01%) | 1.06 (0.54–2.10) | |||
| CC | 51/172495 (0.03%) | 2.17 (1.13–4.16) | |||
| OR per allele | 1.67 (1.22–2.28) | 2.25 (2.09–2.42) | |||
| NFKB1 rs230540 |
CC | 11/59492 (0.02%) | 1 | ||
| CT | 43/216576 (0.02%) | 1.07 (0.55–2.08) | |||
| TT | 41/205265 (0.02%) | 1.08 (0.56–2.10) | |||
| OR per allele | 0.97 (0.72–1.31) | 1.25 (1.17–1.33) | |||
| IRF4 rs9405192 |
AA | 4/33043 (0.01%) | 1 | ||
| GA | 39/182247 (0.02%) | 1.77 (0.63–4.95) | |||
| GG | 54/259096 (0.02%) | 1.72 (0.62–4.75) | |||
| OR per allele | 0.90 (0.65–1.25) | 1.29 (1.21–1.37) | |||
| GWAS14 SNP Combinations |
HLADQA1 rs2187668 PLA2R1 rs4664308 |
CCGG | 5/59756 (0.01%) | 1 | |
| CCAG | 17/168473 (0.01%) | 1.21 (0.44–3.27) | |||
| CCAA | 22/129287 (0.02%) | 2.03 (0.77–5.37) | |||
| CTGG | 4/20131 (0.02%) | 2.37 (0.64–8.84) | |||
| CTAG | 13/56717 (0.02%) | 2.74 (0.98–7.68) | |||
| CTAA | 22/41222 (0.05%) | 6.38 (2.42–16.84) | |||
| TTAG | 4/5569 (0.07%) | 8.58 (2.31–31.96) | |||
| TTGG | 2/1974 (0.10%) | 12.11 (2.35–62.37) | |||
| TTAA | 8/4079 (0.20%) | 23.44 (7.67–71.62) | |||
| GWAS14 Risk Groups |
Low Risk | CCGG | 5/59756 (0.01%) | 1 | |
| Medium Risk | All else | 84/423373 (0.02%) | 2.37 (0.96–5.85) | ||
| High Risk | TTAA | 8/4079 (0.20%) | 23.44 (7.67–71.62) | ||
| GWAS14 PLA2R1 Groups |
No PLA2R1 allele | CCGG, CTGG, TTGG | 11/81861 (0.01%) | 1 | |
| PLA2R1 Allele | All Else | 86/405347 (0.02%) | 1.58 (0.84–2.96) |
MN—Membranous Nephropathy
RR—Relative Risk
CI—Confidence Interval
GWAS—Genome-wide Association Study
OR—Odds Ratio
SNP—Single Nucleotide Polymorphism.