Haplotype analysis of the BLK-associated blocks
| Block (SNPs)/Start-End (Size) | No. SNPs | Omnibus test | Haplotype | Frequency Cases | Frequency Controls | OR (95% CI) | P-value |
|---|---|---|---|---|---|---|---|
| B1 (rs2409780-rs2618478) | 21 | 1.75E-04 | |||||
| 11374997-11393411 (18.4 kb) | TACGGTAGCTGTAGGGGCCGA | 0.079 | 0.073 | ns | 0.4517 | ||
| CCCGTCCGTTATAGGAGCCGA | 0.299 | 0.245 | 1.32 (1.16-1.49) | 1.61E-05 | |||
| TACGGTAGCTGTAGGGGCGGA | 0.504 | 0.559 | 0.81 (0.73-0.91) | 7.56E-05 | |||
| TATAGTAACCGCCCAGAGCAA | 0.011 | 0.014 | ns | 0.3503 | |||
| TATAGTAACCGCCCAGAGCAC | 0.108 | 0.109 | ns | 0.9182 | |||
| B3 (rs58373594-8-11433666) | 17 | 3.85E-07 | |||||
| 11428036-11433666 (5.6 kb) | ATCGCATAGAGTAAAAG | 0.489 | 0.541 | 0.80 (0.72-0.89) | 2.70E-04 | ||
| TTGGCATCCAATAGAAG | 0.113 | 0.113 | ns | 0.9928 | |||
| AACACACAGGACAGTAG | 0.045 | 0.045 | ns | 0.9493 | |||
| AACACACAGGACGGTAG | 0.323 | 0.290 | 1.13 (1.01-1.27) | 0.013 | |||
| AACACATAGGACAGTAG | 0.030 | 0.011 | 2.75 (1.80-4.19) | 5.16E-07 | |||
| Strongest window (rs2248932-rs9329246) / 11429059-11430289 (1.2 kb) | 4 | 1.58E-10 | |||||
| B5 (rs2244931-rs17744726) | 15 | 2.56E-04 | |||||
| 11441178-11449232 (8.1 kb) | CAAGAGTACCGTTTA | 0.291 | 0.328 | 0.84 (0.75-0.95) | 3.94E-03 | ||
| CGAGGGCACCGTATG | 0.134 | 0.110 | 1.26 (1.06-1.49) | 0.011 | |||
| GAAGAGTACCGTATG | 0.014 | 0.010 | ns | 0.2331 | |||
| CAAGAGTACCGTATG | 0.061 | 0.067 | ns | 0.3859 | |||
| GGAGGGCACCGTATG | 0.370 | 0.362 | ns | 0.5478 | |||
| GAAGGGTACCGTATG | 0.077 | 0.078 | ns | 0.8688 | |||
| CAAGGGTACCGTATG | 0.012 | 0.010 | ns | 0.6186 | |||
| GGAGGGTACCGTATG | 0.019 | 0.024 | ns | 0.236 | |||
| CAAAAATATTTCATG | 0.023 | 0.010 | 2.48 (1.54-4.00) | 1.57E-04 |
The first column indicates the block for which the haplotype analysis corresponds to. For each block, the first and the last SNP, the starting and ending positions, as well as the size in kilobases (kb) are also presented. The Omnibus P value indicates the overall significance of the association of the block. Only haplotypes with frequencies equal to or greater than 0.01 were tested. For the haplotype-specific analyses, the odds ratio (OR) with 95% confidence interval (95% CI) and P-values were determined for each haplotype tested against all of the others pooled together. In block B3, the SNPs comprising the strongest associated window are underlined and the omnibus test for this window is presented. All analyses were performed using PLINK software, version 1.07. ns: non-significant