| Haplotypes for LMP2 exon3-LMP7 exon2-LMP7 intron6- DRB1*03:01 |
Number of haplotypes observed |
Observed haplotype frequency Pab |
Expected haplotype frequency (Pa X Pb) |
D= (Pab - Pa X Pb) |
D’=D/ Pa (1-Pb) |
r2=D2/Pa X Pb |
r =√r2 |
| For T1D patients 2N=398 |
|
|
|
|
|
|
| GCG-DRB1*03:01 |
148 |
0.3718 |
0.2964 |
0.0754 |
0.2273 |
0.0192 |
0.1385 |
| GCG-DRB1*07:01 |
21 |
0.0527 |
0.0474 |
0.0054 |
0.00932 |
0.00062 |
0.0248 |
| ACT-DRB1*03:01 |
33 |
0.0829 |
0.0746 |
0.0083 |
0.0998 |
0.00093 |
0.0305 |
| ACT-DRB1*07:01 |
14 |
0.0352 |
0.0119 |
0.0233 |
0.1594 |
0.0455 |
0.2134 |
| GCT-DRB1*03:01 |
30 |
0.0754 |
0.0472 |
0.02818 |
0.5337 |
0.0168 |
0.1297 |
| GCT-DRB1*07:01 |
3 |
0.00754 |
0.00754 |
0 |
0 |
0 |
0 |
| For healthy controls 2N=700 |
|
|
|
|
|
|
| GCG-DRB1*03:01 |
51 |
0.0728 |
0.04437 |
0.02843 |
0.06337 |
0.01822 |
0.1349 |
| GCG-DRB1*07:01 |
61 |
0.0871 |
0.0838 |
0.00329 |
0.008 |
0.00013 |
0.0114 |
| ACT-DRB1*03:01 |
9 |
0.01286 |
0.0117 |
0.00116 |
0.0098 |
0.00012 |
0.0107 |
| ACT-DRB1*07:01 |
16 |
0.0229 |
0.0221 |
0.0008 |
0.0074 |
2.896E-05 |
0.00538 |
| GCT-DRB1*03:01 |
18 |
0.0257 |
0.01467 |
0.01103 |
0.07436 |
0.00829 |
0.0911 |
| GCT-DRB1*07:01 |
39 |
0.0557 |
0.0277 |
0.028 |
0.207 |
0.0284 |
0.1685 |
Pab = Observed haplotype frequency counted directly and divided by 2N and the resulting haplotype frequencies were used to calculate D, Pa = haplotype frequency (hf) of
GCG, ACT or GCT, Pb = gene frequency of DRB1*03:01. Haplotype frequency of (Pa) GCG=0.628, ACT=0.158, GCT=0.1, gf (Pb) of DRB1*03:01=0.472, DRB1*07:01=0.0754
in T1D. In controls hf frequency of GCG=0.493, ACT=0.13, GCT=0.163, gf of DRB1*03:01=0.09, DRB1*07:01=0.17 |
