Table 5.
Association of CR1 haplotypes with endemic pemphigus foliaceus.
| Phylogenetic Haplotype | Nucleotide sequence | Patient groups n/n total (%) | Control groups n/n total (%) | OR | 95% CI | P (q) | Model |
|---|---|---|---|---|---|---|---|
| *3B2B | GTHMCTKCA | Patient 57/292 (19.5) |
Endemic 66/252 (26.2) |
0.57 | 0.35–0.93 | 0.027 (0.042) | Dominant |
| Localized lesion 5/25 (20) |
Endemic 66/252 (26.2) |
0.25 | 0.089–0.72 | 0.010 (0.025) | Dominant | ||
| Localized lesion 5/25 (20) |
Endemic 66/252 (26.2) |
0.26 | 0.093–0.72 | 0.010 (0.029) | Additive | ||
| Localized lesion 5/25 (20) |
Non-endemic 71/312 (22.8) |
0.35 | 0.12–1.00 | 0.052 (0.050) | Dominant | ||
| Localized lesion 5/25 (20) |
Non-endemic 71/312 (22.8) |
0.35 | 0.12–0.99 | 0.049 (0.045) | Additive | ||
| *1 | GCHTCTKCG | Patient 36/292 (12.3) |
Non-endemic 32/252 (12.7) |
4.97 | 2.13–11.59 | <103 (0.004) | Dominant |
| Patient 36/292 (12.3) |
Non-endemic 32/252 (12.7) |
4.76 | 2.08–10.87 | <103 (0.008) | Additive | ||
| Generalized lesion 9/52 (17.3) |
Non-endemic 32/252 (12.7) |
4.33 | 1.74–10.77 | 0.002 (0.012) | Dominant and additive | ||
| Localized lesion 3/25 (12) |
Non-endemic 32/252 (12.7) |
5.50 | 1.84–16.45 | 0.002 (0.016) | Dominant | ||
| Localized lesion 3/25 (12) |
Non-endemic 32/252 (12.7) |
5.32 | 1.85–15.24 | 0.002 (0.021) | Additive | ||
| *3A2A | GCRTTTKCG | Patient 25/292 (8.6) | Non-endemic 43/252 (12.8) | 0.46 | 0.25–0.85 | 0.014 (0.033) | Dominant |
| Patient 25/292 (8.6) | Non-endemic 43/252 (12.8) | 0.49 | 0.27–0.89 | 0.020 (0.037) | Additive |
Haplotypes represented nine investigated CR1 SNPs (rs6656401, rs3849266, rs2274567, rs3737002, rs11118131, rs11118167, rs17047660, rs4844610, and rs12034383). One-letter, underlined amino acid symbols are given instead of nucleotide substitutions, where appropriate. n, number of chromosomes; OR, odds ratio, corrected for age, ancestry group, and sex distribution; CI, confidence interval.
Fisher's exact test. Dominant model: individuals with the haplotype were more frequent in one of the groups, regardless of whether homozygous or heterozygous. Additive model: homozygote individuals were overrepresented in one of the groups, followed by heterozygotes, meaning that the haplotype presents an additive effect for increasing resistance/protection against the disease.