Introduction
Materials and methods
Study subjects
AIRESNPs genotyping
SNP | Position | MAF CEU | MAF JPT |
---|---|---|---|
rs2776377 | 44529072 | 0.438 (G) | 0.265 (A) |
rs3761390 | 44529667 | 0.000 (G) | 0.023 (G) |
rs3746964 | 44530416 | 0.018 (C) | 0.283 (C) |
rs878081 | 44532705 | 0.336 (T) | 0.173 (T) |
rs2075876 | 44533581 | 0.123 (A) | 0.347 (A) |
rs1055311 | 44533996 | 0.261 (T) | 0.009 (T) |
rs2075877 | 44534480 | 0.019 (A) | 0.320 (A) |
rs1003854 | 44534535 | 0.345 (C) | 0.292 (C) |
rs941405 | 44534838 | 0.422 (G) | 0.341 (C) |
rs2073610 | 44534956 | 0.016 (C) | 0.386 (C) |
rs2073611 | 44535109 | 0.016 (A) | 0.386 (A) |
rs1078480 | 44535630 | 0.454 (G) | 0.373 (A) |
rs2741985 | 44536295 | 0.460 (C) | 0.341 (T) |
rs933150 | 44537016 | 0.381 (A) | 0.270 (A) |
rs2256817 | 44539814 | 0.413 (A) | 0.337 (G) |
rs760426 | 44540242 | 0.159 (G) | 0.359 (G) |
rs760427 | 44540419 | 0.156 (A) | 0.443 (A) |
rs1800522 | 44541978 | 0.433 (C) | 0.367 (T) |
Bioinformatic analysis of AIREexpression
Statistical analysis
Results
SNP (location) | Allele | Controls 2n= 942 | Patients 2n= 930 | P-value | Pc-valuea | Odds ratio (95% CI) | Japanese populationb |
---|---|---|---|---|---|---|---|
rs2776377 (5'UTR) | A | 0.589 | 0.597 | ns | 0.265c | ||
rs878081 (exon 5) | C | 0.746 | 0.805 | 0.0022 | 0.0123 | 1.41 (1.13, 1.75) | 0.827c |
rs2075876 (intron 5) | A | 0.114 | 0.116 | ns | 0.340d | ||
rs1055311 (exon 6) | T | 0.206 | 0.219 | ns | 0.012c | ||
rs1800520 (exon 7) | G | 0.017 | 0.019 | ns | 0.420d |
Genotypes rs878081 | Controls n= 471 | Patients n= 465 | P-value | P
c-
valuea | Odds ratio (95% CI) |
---|---|---|---|---|---|
CC | 0.564 | 0.656 | 0.005 | 0.0136 | 1.47 (1.12, 1.93) |
CT + TT | 0.436 | 0.344 |
Haplotypes | Controls 2n= 942 | Patients 2n= 930 | P-value | P
c-
value* | Odds ratio (95% CI) | |||
---|---|---|---|---|---|---|---|---|
rs2776377 | rs878081 | rs2075876 | rs1055311 | |||||
A | C | G | C | 0.324 | 0.331 | ns | 1.03 (0.85, 1.24) | |
A | C | G | T | 0.182 | 0.193 | ns | 1.09 (0.86, 1.38) | |
G | T | G | C | 0.174 | 0.124 | 0.0025 | 0.0141 | 0.67 (0.52, 0.87) |
G | C | G | C | 0.110 | 0.146 | 0.0182 | ns | 1.38 (1.05, 1.82) |
G | C | A | C | 0.106 | 0.111 | ns | 1.05 (0.78, 1.40) | |
A | T | G | C | 0.076 | 0.065 | ns | 0.84 (0.59, 1.20) |