Table 1.
NADPH polymorphisms: Results of family-based association TDT and haplotype relative risk (HRR) tests.
| Gene | Marker | ANALYZE Analyses 1 | PLINK Analyses | |||||||
|---|---|---|---|---|---|---|---|---|---|---|
| HRR p Value | TDT p Value | Minor Allele 2 | MAF | Transmitted/Untransmitted 3 | TDT p Value | OR [95% CI] | p Par 4 | p Comb 4 | ||
| NCF1 | D7S1870 | 0.0491 | 0.0383 | 20 repeats | 0.4533 | Untransmitted | 0.330 | 0.727 [0.38–1.385] | 0.157 | 0.206 |
| D7S2518 | 0.376 | 0.431 | 7 repeats | 0.3986 | / | 1 | 1 [0.351–2.851] | 0.414 | 0.655 | |
| NCF2 | rs796860 | 0.895 | 0.500 | C | 0.06548 | / | 1 | 1 [0.250–3.998] | 1 | 1 |
| rs2296164 | 0.568 | 0.399 | T | 0.4861 | Untransmitted | 0.297 | 0.643 [0.278–1.485] | 0.564 | 0.239 | |
| rs3818364 | 0.604 | 0.500 | T | 0.4688 | Transmitted | 0.847 | 1.0770 [0.506–2.291] | 0.564 | 0.715 | |
| rs789192 | 0.183 | 0.253 | G | 0.4268 | Transmitted | 0.144 | 1.727 [0.822–3.630] | 0.317 | 0.423 | |
| rs2274065 | 0.293 | 0.500 | C | 0.0974 | Transmitted | 0.180 | 4 [0.447–35.790] | 0.317 | 0.414 | |
| NCF4 | rs1883112 | 0.991 | 0.500 | A | 0.3861 | Transmitted | 0.353 | 1.417 [0.677–2.966] | 0.257 | 0.182 |
| rs741999 | 0.680 | 0.444 | A | 0.4444 | Transmitted | 0.336 | 1.455 [0.675–3.134] | 0.479 | 0.237 | |
| CYBA | rs4673 | 0.319 | 0.199 | T | 0.1795 | Untransmitted | 0.317 | 0.600 [0.218–1.651] | 0.564 | 0.251 |
| rs2306422 | 0.661 | 0.500 | T | 0.494 | Transmitted | 0.739 | 1.118 [0.581–2.150] | 0.655 | 0.876 | |
| CYBB | rs5963310 | 0.239 | 0.0274 | A | 0.09848 | Untransmitted | 0.0578 | 0.250 [0.0531–1.177] | 0.0833 | 0.0126 |
| rs9330580 | 0.663 | 0.206 | A | 0.1203 | Untransmitted | 0.366 | 0.571 [0.167–1.952] | 0.0833 | 0.109 | |
Suggestive p values (p < 0.05) are indicated in bold. Results are presented not corrected for multiple testing (total number of performed analyses for each test: 11; Bonferroni threshold for significance: p < 0.0045). 1 Analyses were run both considering MS frequency of 0.01 and penetrance of 0.05, as well as considering MS frequency of 0.0006 and penetrance of 0.76 (identical results). 2 In the case of multiallelic markers (D7S1870, D7S2518), the minor allele corresponds to the most frequent repeat, which was analyzed against all the others clumped together. 3 Indication referred to the minor allele. 4 p par (p values for parents) and p comb (combined p value, deriving from the asymptotic TDT p value and the p par value). NADPH, nicotinamide adenine dinucleotide phosphate; CI, confidence interval; HRR, haplotype relative risk; MAF, minor allele frequency; OR, odds ratio; TDT, transmission disequilibrium test.