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Table 1 Summary of cis-eQTL findings from celiac peripheral blood and HapMap B cell line data sets

From: Complex nature of SNP genotype effects on gene expression in primary human leucocytes

Population

110 celiac disease samples

(Celiac peripheral blood dataset)

90 Caucasian HapMap samples

(HapMap B cell datasets)

Expression data

Illumina HumanRef-8 v2 Whole

Genome BeadChip (19,867 mapped transcripts)

Illumina HumanRef-6 v1 Whole

Genome BeadChip (44,791 mapped transcripts)

Genotype data

Illumina Infinium HumanHap300 BeadChip (257,013 SNPs assessed)

Subset of all HapMap Genotypes present on Illumina Infinium HumanHap300 BeadChip (257,013 SNPs assessed)

 

FDR 0.01

FDR 0.05

FDR 0.01

FDR 0.05

SNP-Probe midpoint distance

250 kb

500 kb

250 kb

500 kb

250 kb

500 kb

250 kb

500 kb

FDR Spearman's Correlation P-Value Threshold

p < 1.67 × 10-5

p < 6.57 × 10-6

p < 1.36 × 10-4

p < 5.47 × 10-5

p < 1.08 × 10-5

p < 4.20 × 10-6

p < 8.79 × 10-5

p < 3.47 × 10-5

Number of performed tests

930,456

1,850,599

930,456

1,850,599

1,913,342

3,820,148

1,913,342

3,820,148

Number of detected different

SNP-probe effects

1,529 (235)

1,360 (233)

2,487 (372)

2,178 (355)

1,981 (664)

1,799 (623)

3,226 (1,068)

2,839 (988)

Number of unique probes

470 (65)

394 (56)

765 (98)

658 (84)

613 (193)

536 (177)

994 (289)

821 (255)

Number of unique genes

460 (65)

385 (56)

753 (98)

647 (84)

563 (189)

491 (174)

903 (277)

746 (244)

Number of unique SNPs

1,432 (234)

1,273 (230)

2,315 (367)

2,035 (345)

1,743 (628)

1,601 (585)

2,826 (1009)

2,464 (920)

  1. Numbers within brackets denote the number of cis-eQTLs, probes or genes that are potentially due to SNPs that map within the probe and affect the hybridization efficacies of these probes.