Table 2.
SNP Data and Analysis
A. Counts and Frequencies of Individual SNP Genotypes* | ||||||
---|---|---|---|---|---|---|
All PBC (n = 351) | Control (n = 205) | AMA+ PBC (n = 303) | AMA− PBC (n = 44) | OLT PBC (n = 29) | Non-OLT PBC (n = 322) | |
CTLA4 49AG | ||||||
AA | 131 (0.37) | 79 (0.39) | 112 (0.37) | 19 (0.43) | 8 (0.28) | 123 (0.38) |
AG | 161 (0.46) | 99 (0.48) | 134 (0.44) | 24 (0.55) | 12 (0.41) | 149 (0.46) |
GG | 59 (0.17) | 27 (0.13) | 57 (0.19) | 1 (0.02) | 9 (0.31) | 50 (0.16) |
CTLA4 CT60 | ||||||
GG | 117 (0.33) | 70 (0.34) | 105 (0.35) | 10 (0.23) | 15 (0.52) | 102 (0.32) |
AG | 168 (0.48) | 94 (0.46) | 142 (0.47) | 24 (0.55) | 13 (0.45) | 155 (0.48) |
AA | 66 (0.19) | 41 (0.20) | 56 (0.18) | 10 (0.23) | 1 (0.03) | 65 (0.20) |
PDCD1 PD1.3 | ||||||
GG | 267 (0.76) | 161 (0.79) | 236 (0.78) | 29 (0.66) | 22 (0.76) | 245 (0.76) |
AG | 80 (0.23) | 40 (0.20) | 64 (0.21) | 15 (0.34) | 5 (0.17) | 75 (0.23) |
AA | 4 (0.01) | 4 (0.02) | 3 (0.01) | 0 | 2 (0.07) | 2 (0.01) |
B. Statistical Analysis of SNP Genotypes Based on Logistic Regression and Adjusted for Age and Sex | ||||||
---|---|---|---|---|---|---|
All PBC Versus Controls
|
AMA+ Versus AMA− PBC
|
OLT Versus Non-OLT PBC
|
||||
OR (95% CI) | P value | OR (95% CI) | P value | OR (95% CI) | P value | |
CTLA4 49AG | ||||||
Log-additive | 1.11 (0.86–1.42) | 0.44 | 1.67 (1.03–2.71) | 0.04 | 1.69 (1.00–2.88) | 0.05 |
Dominant | 1.05 (0.73–1.51) | 0.79 | 1.35 (0.71–2.58) | 0.36 | 1.71 (0.73–4.00) | 0.22 |
Recessive (GG) | 1.33 (0.81–2.20) | 0.26 | 9.96 (1.34–73.97) | 0.02 | 2.46 (1.05–5.76) | 0.04 |
CTLA4 CT60 | ||||||
Log-additive | 1.00 (0.78–1.27) | 0.97 | 0.71 (0.45–1.12) | 0.14 | 0.44 (0.24–0.81) | 0.008 |
Dominant | 1.05 (0.72–1.52) | 0.80 | 0.55 (0.26–1.17) | 0.12 | 0.43 (0.20–0.93) | 0.03 |
Recessive (AA) | 0.92 (0.59–1.43) | 0.71 | 0.73 (0.34–1.58) | 0.43 | 0.13 (0.02–0.99) | 0.05 |
PDCD1 PD1.3 | ||||||
Log-additive | 1.05 (0.72–1.55) | 0.78 | 0.62 (0.33–1.17) | 0.14 | 1.35 (0.62–2.93) | 0.46 |
Dominant | 1.12 (0.74–1.71) | 0.59 | 0.54 (0.27–1.08) | 0.08 | 1.01 (0.41–2.47) | 0.99 |
Recessive (AA) | 0.55 (0.13–2.36) | 0.43 | – | – | 14.74 (1.89–114.9) | 0.01 |
Values are expressed as count (frequency).
Bold text indicates statistically significant findings (i.e., P ≤ 0.05).