Table 5 Overlapping top SNVs from our biomarker GWAS with WGS data and top SNVs from the eQTL analyses by Westra et al.51.

From: Improved power and precision with whole genome sequencing data in genome-wide association studies of inflammatory biomarkers

Gene name

Biomarker

Top SNV (biomarker GWAS)

Annotation

Top SNV (eQTL)

LD

P (biomarker GWAS)

P (eQTL)

CD40

CD40 (INF)

rs1569723

intergenic (NCOA5;CD40)

rs1569723

1

5.24 × 10−43

1.06 × 10−28

CD40

CD40 (ONC_CVD)

rs4239702

intronic (CD40)

rs4239702

1

1.01 × 10−49

1.26 × 10−34

CXCL5

CXCL5 (INF)

rs352045 (cis)*

upstream (CXCL5)

rs352045

1

6.09 × 10−27

4.25 × 10−111

CXCL5

CXCL5 (ONC_CVD)

rs425535 (cis)*

exonic (CXCL5)

rs425535

1

1.09 × 10−34

4.50 × 10−111

IL15RA

IL-15RA

rs3136630

intronic (IL15RA)

rs3136630

1

2.64 × 10−19

5.21 × 10−6

CXCL5

CXCL5 (INF)

rs10740118 (trans)**

intronic (JMJD1C)

rs10761779

0.856

2.93 × 10−13

1.82 × 10−7

CXCL5

CXCL5 (ONC_CVD)

rs7088799 (trans)**

intronic (JMJD1C)

rs10761779

0.856

7.36 × 10−16

1.82 × 10−7

IL18R1

IL-18R1

rs12999517

intronic (IL1RL1)

rs12999517

1

4.89 × 10−19

1.13 × 10−39

TNFSF14

TNFSF14

rs2291668

synonymous (TNFSF14)

rs1077667

0.899

4.71 × 10−07

4.36 × 10−47

CCL23

CCL23

rs854671

intergenic (CCL23;CCL18)

rs854671

1

1.48 × 10−08

3.21 × 10−27

  1. Linkage disequilibrium (R2) is presented for biomarkers that had different top SNVs in ONC_CVD and INF, but are both in LD with a top eQTL.
  2. From the conditional analysis, adjusted for the top variant.
  3. From the second conditional analysis, adjusted for the top primary and secondary variant.
  4. *Top variant in cis, within 1 Mb of the gene encoding the biomarker.
  5. **Top variant in trans, on another chromosome than the gene encoding the biomarker.