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. 2017 Feb 27;8:14357. doi: 10.1038/ncomms14357

Table 2. List of replicated trans-pQTLs.

Locus Candidate cis-gene(s) Sentinel SNP Chr Position Type Pvalue KORA P value QMDiab Protein name (gene symbol)
36 ABOabc, TSC1b, AK8b, SARDHb, GBGT1c rs505922 9 136,149,229 Trans 1.2 × 10−20 1.0 × 10−8 von Willebrand factor (VWF)
          Trans 7.6 × 10−86 4.1 × 10−28 CD209 antigen (CD209)
269 ABOac, DBHb, ADAMTSL2b, SARDHb, RALGDSb,... rs630510 9 136,149,581 Trans 1.6 × 10−15 2.4 × 10−10 Tyrosine-protein kinase receptor Tie-1, soluble (TIE1)
28 ABOac, DBHb, ADAMTSL2b, SARDHb, RALGDSb,... rs651007 9 136,153,875 Trans 1.2 × 10−96 8.2 × 10−23 E-Selectin (SELE)
          Trans 3.9 × 10−44 5.2 × 10−15 Insulin receptor (INSR)
          Trans 1.1 × 10−31 1.4 × 10−8 Vascular endothelial growth factor receptor 3 (FLT4)
          Trans 3.3 × 10−19 1.2 × 10−9 Hepatocyte growth factor receptor (MET)
          Trans 3.1 × 10−13 1.9 × 10−5 Vascular endothelial growth factor receptor 2 (KDR)
          Trans 7.4 × 10−13 3.4 × 10−6 P-Selectin (SELP)
          Trans 8.0 × 10−11 8.2 × 10−6 OX-2 membrane glycoprotein (CD200)
79 CPN1a, HIF1ANc rs7091871 10 101,810,304 Trans 1.0 × 10−48 3.5 × 10−16 Calcium/calmodulin-dependent protein kinase type 1 (CAMK1)
          Trans 1.4 × 10−12 1.7 × 10−7 Calpastatin (CAST)
150 SIK3ab, SIDT2bc, PCSK7b, BUD13b, RNF214b,... rs12099358 11 116,726,048 Trans 1.6 × 10−26 1.9 × 10−8 Beta-endorphin (POMC)
65 OAFabe, POU2F3bc, ARHGEF12b, TMEM136b, TRIM29b,... rs692804 11 120,099,368 Trans 1.1 × 10−56 5.3 × 10−24 Interleukin-25 (IL25)
115 C1Sabce, C1RLc rs12146727 12 7,170,336 Cis 3.4 × 10−35 3.6 × 10−7 Complement C1r subcomponent (C1R)
          Trans 2.0 × 10−15 8.8 × 10−6 Complement C1q subcomponent (C1QA C1QB C1QC)
304 POC1B-GALNT4ace, GALNT4ace, POC1Bac, ATP2B1c rs722414 12 89,937,437 Trans 2.3 × 10−14 3.1 × 10−6 CMRF35-like molecule 6 (CD300C)
8 ZC3H13ae, CPB2ae, LCP1c rs1926447 13 46,629,944 Trans 2.2 × 10−145 4.3 × 10−5 MAP kinase-activated protein kinase 3 (MAPKAPK3)
155 PROZac, PCID2a, CUL4Aa rs515863 13 113,839,747 Trans 2.5 × 10−26 6.2 × 10−9 Dual specificity mitogen-activated protein kinase kinase 2 (MAP2K2)
67 DHX38ac, TXNL4Ba, PMFBP1a, HPRc, DHODHc, HPc rs9302635 16 72,144,174 Cis 6.3 × 10−54 6.2 × 10−19 Haptoglobin (HP)
          Trans 2.8 × 10−10 1.4 × 10−8 Ferritin (FTH1 FTL)
82 SARM1ac, VTNa, SLC46A1a, TMEM199c, POLDIP2c, TMEM97c rs2239908 17 26,725,265 Trans 9.5 × 10−48 3.1 × 10−10 Semaphorin-3 A (SEMA3A)
          Trans 3.0 × 10−24 3.9 × 10−8 Calcium/calmodulin-dependent protein kinase type 1D (CAMK1D)
          Trans 1.1 × 10−10 7.7 × 10−5 WNT1-inducible-signalling pathway protein 1 (WISP1)
54 APOC4ae, APOC4-APOC2ae, APOC2a, APOEc, APOC1c,... rs5167 19 45,448,465 Trans 2.1 × 10−69 9.5 × 10−6 Granulocyte colony-stimulating factor (CSF3)
106 TRPC4APabc, EDEM2abc, PROCRace, GSSab, MYH7Bab,... rs867186 20 33,764,554 Trans 5.5 × 10−38 9.0 × 10−24 Vitamin K-dependent protein C (PROC)

Loci that comprise at least one replicated trans-association. Loci are referenced in this study by numbers ranging from 1 to 451 (strongest to weakest) and sorted here by chromosome position. P values are for the association with inverse-normal scaled protein levels from linear regression with genotype; see Supplementary Data 1 for full data of all 539 SNP-protein associations at 451 loci, including statistics for association with alternatively raw- and log-normal-scaled protein levels and estimated replication power. Candidate genes for the protein associations were annotated by considering the following criteria: a variant in linkage disequilibrium with the sentinel SNP (r2>0.8) is located in the gene transcript (superscript a), a variant hits a regulatory element of that gene (superscript b), a variant is a cis-eQTL (superscript c), a variant is a trans-eQTL (superscript d), a variant is protein changing (superscript e). The list of candidate genes in this table is limited to the five most plausible candidate genes for each locus. The full list is available online and in Supplementary Data 1. Every trans-pQTL implies the existence of a functional and causal link between a cis-encoded candidate gene and the trans-encoded target protein(s).