Table I.
Genotyping of the three rare variants
| Variant | Amino acid substitution | Allele frequency amongst controls | Genotype | Controls (%) | Cases (%) | OR (95% CI) |
| c.2251-37 rs2470353 Triallelic: C>G SNP, C>A rare variant | Intron 11 | 0 | CC | 201 (27.2) | 183 (25.4) | 1 |
| CG | 358 (48.4) | 347 (48.1) | 1.1 (0.8–1.4) | |||
| GG | 181 (24.5) | 190 (26.3) | 1.2 (0.9–1.5) | |||
| CA | 0 (0) | 2 (0.28) | ND | |||
| AA | 0 (0) | 0 (0) | ND | |||
| c.1177C>T rs121965090 | Arg393Trp | 0.002 | CC | 790 (99.6) | 750 (99.1) | 1.0 |
| CT | 3 (0.4) | 7 (0.9) | 2.5 (0.6–9.5) | |||
| TT | 0 (0) | 0 (0) | ND | |||
| c.905T>C rs121965091 | Phe302Ser | 0.0006 | TT | 787 (99.9) | 757 (99.7) | 1.0 |
| TC | 1 (0.1) | 2 (0.3) | 2.1 (0.2–23.0) | |||
| CC | 0 (0) | 0 (0) | ND | |||
| c.*156G>A rs121965092 | 3′ UTR | 0 | GG | 785 (100) | 759 (99.9) | 1.0 |
| GA | 0 (0) | 1 (0.1) | ND | |||
| AA | 0 (0) | 0 (0) | ND | |||
| c.2251-37C>A, c.1177C>T c.905T>C and c.*156G>A combined | No rare allele | 771 (99.5) | 735 (98.4) | 1.0 | ||
| ≥1 rare allele | 4 (0.5) | 12 (1.6) | 3.1 (1.0–9.8)a |
a
Statistically significant with P-value < 0.05.