Table 1

Haplotype analysis of the BLK-associated blocks

Block (SNPs)/Start-End (Size)No. SNPsOmnibus testHaplotypeFrequency CasesFrequency ControlsOR (95% CI)P-value
B1 (rs2409780-rs2618478)211.75E-04
11374997-11393411 (18.4 kb)TACGGTAGCTGTAGGGGCCGA0.0790.073ns0.4517
CCCGTCCGTTATAGGAGCCGA0.2990.2451.32 (1.16-1.49)1.61E-05
TACGGTAGCTGTAGGGGCGGA0.5040.5590.81 (0.73-0.91)7.56E-05
TATAGTAACCGCCCAGAGCAA0.0110.014ns0.3503
TATAGTAACCGCCCAGAGCAC0.1080.109ns0.9182
B3 (rs58373594-8-11433666)173.85E-07
11428036-11433666 (5.6 kb)ATCGCATAGAGTAAAAG0.4890.5410.80 (0.72-0.89)2.70E-04
TTGGCATCCAATAGAAG0.1130.113ns0.9928
AACACACAGGACAGTAG0.0450.045ns0.9493
AACACACAGGACGGTAG0.3230.2901.13 (1.01-1.27)0.013
AACACATAGGACAGTAG0.0300.0112.75 (1.80-4.19)5.16E-07
Strongest window (rs2248932-rs9329246) / 11429059-11430289 (1.2 kb)41.58E-10
B5 (rs2244931-rs17744726)152.56E-04
11441178-11449232 (8.1 kb)CAAGAGTACCGTTTA0.2910.3280.84 (0.75-0.95)3.94E-03
CGAGGGCACCGTATG0.1340.1101.26 (1.06-1.49)0.011
GAAGAGTACCGTATG0.0140.010ns0.2331
CAAGAGTACCGTATG0.0610.067ns0.3859
GGAGGGCACCGTATG0.3700.362ns0.5478
GAAGGGTACCGTATG0.0770.078ns0.8688
CAAGGGTACCGTATG0.0120.010ns0.6186
GGAGGGTACCGTATG0.0190.024ns0.236
CAAAAATATTTCATG0.0230.0102.48 (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