Table 5.
Association of SNPs in the HLA region with PBC in the absence of major HLA factors identified in this study.
| Population | Number of individuals | SNPs with p < 5 × 10−8 | Odds ratio (95% CI), p | |||
|---|---|---|---|---|---|---|
| Patients | Controls | rs9268644* | rs9275175† | rs9277509§ | ||
| All | ||||||
| 1200 | 1196 | 305/4103 | 0.39 (0.33–0.47), p = 5.64 × 10 −24 | 0.41 (0.33–0.50), p = 6.06 × 10−18 | 0.55 (0.46–0.65), p = 1.63 × 10−12 | |
| DQB1*06:04 –negative | ||||||
| 1163 | 1025 | 62/4103 | 0.52 (0.43–0.64), p = 3.69 × 10−10 | 0.46 (0.36–0.58), p = 8.71 × 10−12 | 0.63 (0.53–0.75), p = 1.91 × 10−7 | |
| DRB1*08:03 –negative | ||||||
| 917 | 1017 | 361/4103 | 0.42 (0.34–0.51), p = 1.70 × 10−18 | 0.44 (0.36–0.55), p = 5.76 × 10−14 | 0.51 (0.42–0.61), p = 5.78 × 10−13 | |
| DQB1*03:01 –negative | ||||||
| 1056 | 940 | 333/4103 | 0.41 (0.33–0.51), p = 3.45 × 10−17 | 0.43 (0.34–0.56), p = 1.56 × 10−11 | 0.54 (0.45–0.65), p = 5.45 × 10−11 | |
| DQB1*04:01 –negative | ||||||
| 822 | 916 | 251/4103 | 0.41 (0.33–0.50), p = 1.04 × 10−17 | 0.43 (0.34–0.53), p = 1.31 × 10−14 | 0.49 (0.40–0.60), p = 2.05 × 10−12 | |
| DQB1*06:04 -negative, DQB1*03:01 –negative | ||||||
| 1020 | 790 | 3/4103 | 0.65 (0.51–0.83), p = 0.00054 | 0.54 (0.41–0.71), p = 6.90 × 10−6 | 0.65 (0.53–0.78), p = 6.87 × 10−6 | |
| DRB1*08:03 -negative, DQB1*04:01 –negative | ||||||
| 594 | 763 | 225/4103 | 0.45 (0.35–0.56), p = 2.13 × 10−12 | 0.48 (0.38–0.61), p = 5.04 × 10−10 | 0.45 (0.36–0.57), p = 3.46 × 10−12 | |
| DQB1*06:04 -negative, DRB1*08:03 -negative, DQB1*03:01 -negative, DQB1*04:01 -negative | ||||||
| 476 | 440 | 0/4103 | 0.79 (0.59–1.07), p = 0.13 | 0.62 (0.46–0.83), p = 0.0013 | 0.49 (0.37–0.65), p = 2.30 × 10 −7 | |
*A SNP located in the DR locus (the first intron of DRA, chr 6:32408044–32408044), which showed the minimal p value for the dominant model of variant allele in the comparison of all patients and controls (shown in bold).
†A SNP located near the DQ locus (20 kb upstream of DQB1, chr 6: 32654147–32654147), which showed the minimal p value in our previous GWAS (16).
§A SNP located in the DP locus (the fifth intron of DPB1, chr 6: 33054207–33054207), which showed the minimal p value for the dominant model of a variant allele in the absence of four major HLA factors (shown in bold).