Table 3 Disease-relevant pQTLs from deCODE and UKB-PPP with >99% power that were not replicated and had an MSPA score <0.2

From: A genome-wide association study of mass spectrometry proteomics using a nanoparticle enrichment platform

Assay (platform)

Protein description

GWAS trait

P value

PMID

Missense variant identified

PAV peptide detected

APOA5 (S)

Apolipoprotein A5

Cardiovascular disease

7.1 × 10−14

33959723

x

.

APOBR (O)

Apolipoprotein B receptor

Crohn’s disease

6.9 × 10−22

26192919

x

2

APOL1 (O)

Apolipoprotein L1

Glomerulosclerosis

5 × 10−13

20668430

x

2

F13B (O)

Coagulation factor XIII B chain

Systolic blood pressure

3 × 10−9

33230300

.

.

FCGR2A (S)

Fcγ receptor IIa

Ulcerative colitis

1.4 × 10−41

26192919

.

.

FCGR2A (O)

Fcγ receptor IIa

Aspartate aminotransferase levels

4 × 10−34

33462484

x

1

GDF15 (S)

Growth differentiation factor 15

Severity of nausea and vomiting of pregnancy

2 × 10−41

29563502

x

1

ICAM1 (O)

Intercellular adhesion molecule 1

Liver enzyme levels

3 × 10−11

33972514

x

.

IGFBP3 (O)

Insulin-like growth factor-binding protein 3

Pulse pressure

6.7 × 10−108

33230300

x

2

ITGB6 (O)

Integrin subunit β6

Adolescent idiopathic scoliosis

2 × 10−31

30019117

.

.

ITIH3 (S)

Inter-α-trypsin inhibitor heavy chain 3

Bipolar disorder

5 × 10−14

33479212

x

1

ITIH3 (O)

Inter-α-trypsin inhibitor heavy chain 3

Osteoarthritis (with total hip replacement)

1 × 10−16

34450027

.

.

LPL (O)

Lipoprotein lipase

Coronary artery disease

3.9 × 10−11

29212778

x

.

MFGE8 (O)

Milk fat globule EGF and factor V or VIII domain containing

Liver enzyme levels

7 × 10−20

33972514

.

.

SERPING1 (S)

Serpin family G member 1

Lung function (FEV1/FVC)

1.8 × 10−10

30804560

x

2

TGOLN2 (O)

Trans-Golgi network protein 2

HDL-cholesterol levels

1 × 10−12

32203549

x

.

TNFSF13 (O)

Tumor necrosis factor superfamily member 13

IgA nephropathy

9 × 10−11

22197929

x

.

  1. As Table 2, but for pQTLs that did not replicate and had an MSPA score <0.2. The presence of a missense variant and the detection of one or both protein-altering alleles using the MS platform are reported. Further details are in Supplementary Table 13.