Table 1 List of replicated trans-pQTLs.
From: Connecting genetic risk to disease end points through the human blood plasma proteome
Locus | Candidate cis-gene(s) | Sentinel SNP | Chr | Position | Type | P value KORA | P value QMDiab | Protein name (gene symbol) |
|---|---|---|---|---|---|---|---|---|
192 | GJA9ace, RHBDL2ace, RP5-864K19.6ace, RRAGCab, MYCBPac, … | rs4494114 | 1 | 39,339,682 | Trans | 1.9 × 10−20 | 3.0 × 10−8 | Kunitz-type protease inhibitor 1 (SPINT1) |
210 | C1orf168bc, C8Aa, C8Ba, DAB1b | rs626457 | 1 | 57,407,484 | Trans | 3.3 × 10−19 | 1.7 × 10−8 | Neurexophilin-1 (NXPH1) |
71 | PSRC1ac, CELSR2ac, AMPD2b, SORT1c | rs646776 | 1 | 109,818,530 | Trans | 1.0 × 10−52 | 1.7 × 10−18 | Granulins (GRN) |
413 | F5ae | rs9332653 | 1 | 169,490,772 | Cis | 1.6 × 10−11 | 7.5 × 10−5 | Coagulation Factor V (F5) |
Trans | 1.9 × 10−11 | 1.5 × 10−5 | Calcium/calmodulin-dependent protein kinase type 1 (CAMK1) | |||||
17 | F5ae, SELPb, SELLb | rs4525 | 1 | 169,511,734 | Trans | 2.0 × 10−110 | 1.3 × 10−32 | Calcium/calmodulin-dependent protein kinase type 1 (CAMK1) |
98 | CFHa, CFHR3c | rs6695321 | 1 | 196,675,861 | Trans | 9.4 × 10-40 | 5.1 × 10−5 | Complement C1s subcomponent (C1S) |
72 | CFHR4ae, CFHR2a, ASPMa, ZBTB41a | rs10494745 | 1 | 196,887,457 | Trans | 1.8 × 10−52 | 2.4 × 10−11 | Haemopexin (HPX) |
76 | CFHR4ac, CFHR2/5a,CFHR1/3c, CFHc | rs10801582 | 1 | 196,944,357 | Trans | 1.1 × 10−49 | 2.0 × 10−11 | Haemopexin (HPX) |
122 | TRIM58ae | rs1339847 | 1 | 248,039,294 | Trans | 9.2 × 10−33 | 5.4 × 10−6 | Dynein light chain roadblock-type 1 (DYNLRB1) |
93 | COLEC11ac, ALLCc | rs7588285 | 2 | 3,648,186 | Cis | 1.1 × 10−40 | 1.4 × 10−16 | Collectin-11 (COLEC11) |
Trans | 2.7 × 10−37 | 8.7 × 10−20 | Interleukin-19 (IL19) | |||||
157 | LTFabe, CCR5b, CCR3c | rs1126478 | 3 | 46,501,213 | Trans | 5.1 × 10−26 | 4.1 × 10−13 | Alkaline phosphatase, tissue-nonspecific isozyme (ALPL) |
95 | IP6K2abce, CELSR3abc, NCKIPSDabc, ARIH2abc, USP19abe,... | rs11715835 | 3 | 48,770,732 | Trans | 2.2 × 10−40 | 4.2 × 10−8 | Thioredoxin domain-containing protein 12 (TXNDC12) |
91 | RBM6ac, RNF123ae, BSNa, AMIGO3a, GMPPBa,... | rs4688759 | 3 | 50,008,118 | Trans | 1.8 × 10−42 | 4.2 × 10−8 | Thioredoxin domain-containing protein 12 (TXNDC12) |
52 | DCBLD2c, CPOXc, ST3GAL6c | rs10935480 | 3 | 98,431,986 | Trans | 9.9 × 10−70 | 1.2 × 10−17 | Vascular endothelial growth factor receptor 3 (FLT4) |
352 | DNAJC13abc, ACAD11abe, NPHP3ac, ACKR4a, UBA5a,... | rs17412738 | 3 | 132,257,419 | Trans | 5.3 × 10−13 | 3.8 × 10−5 | C-C motif chemokine 21 (CCL21) |
203 | PCOLCE2ac, U2SURPb, ATRb, PLS1b | rs4683702 | 3 | 142,617,138 | Trans | 2.0 × 10−19 | 8.3 × 10−5 | Endothelin-converting enzyme 1 (ECE1) |
31 | HRGae | rs2228243 | 3 | 186,395,113 | Cis | 4.7 × 10−94 | 2.7 × 10−25 | Histidine-rich glycoprotein (HRG) |
Trans | 4.2 × 10−82 | 6.0 × 10−18 | Dual specificity mitogen-activated protein kinase kinase 4 (MAP2K4) | |||||
43 | HRGae | rs1042445 | 3 | 186,395,436 | Trans | 8.4 × 10−78 | 1.2 × 10−22 | Dual specificity mitogen-activated protein kinase kinase 4 (MAP2K4) |
26 | KNG1ae | rs2304456 | 3 | 186,445,052 | Cis | 2.9 × 10−97 | 2.8 × 10−40 | Kininogen-1 (KNG1) |
Trans | 1.4 × 10−10 | 1.5 × 10−6 | Leucine carboxyl methyltransferase 1 (LCMT1) | |||||
96 | KNG1ae | rs5030062 | 3 | 186,454,180 | Trans | 3.0 × 10−40 | 1.7 × 10−13 | Coagulation Factor XI (F11) |
Trans | 1.8 × 10−35 | 8.0 × 10−10 | Plasma kallikrein (KLKB1) | |||||
123 | SKIV2Lac, C2a, NELFEa, DXOa, STK19a,... | rs9283893 | 6 | 31,897,219 | Trans | 1.2 × 10−32 | 1.6 × 10−28 | Neutrophil collagenase (MMP8) |
159 | SKIV2Lace, C4Bac, TNXBab, DXOa, STK19a,... | rs387608 | 6 | 31,941,557 | Trans | 2.5 × 10−25 | 2.4 × 10−8 | gp41 C34 peptide, HIV (Human-virus) |
182 | TAP2a, PSMB9a, TAP1a, PSMB8a, COL11A2b,... | rs17220241 | 6 | 32,822,244 | Trans | 9.6 × 10−22 | 1.3 × 10−5 | Alpha-2-macroglobulin receptor-associated protein (LRPAP1) |
417 | ZFPM2a, CXCL5d | rs16873418 | 8 | 106,592,145 | Trans | 1.9 × 10−11 | 1.5 × 10−5 | Tumour necrosis factor receptor superfamily member EDAR (EDAR) |
442 | ABOac, SURF1c, SLC2A6c, GBGT1c | rs7857390 | 9 | 136,128,546 | Trans | 5.8 × 10−11 | 1.0 × 10−6 | Tyrosine-protein kinase receptor Tie-1, soluble (TIE1) |
69 | ABOabce, OBP2Bbc, DBHb, SURF1/2b, ADAMTSL2b,... | rs8176749 | 9 | 136,131,188 | Trans | 6.1 × 10−53 | 2.7 × 10−42 | Cadherin-5 (CDH5) |
Trans | 1.7 × 10−51 | 3.5 × 10−27 | Tyrosine-protein kinase receptor Tie-1, soluble (TIE1) | |||||
Trans | 1.1 × 10−35 | 2.0 × 10−10 | Angiopoietin-1 receptor, soluble (TEK) | |||||
Trans | 1.5 × 10−11 | 5.8 × 10−5 | Basal cell adhesion molecule (BCAM) | |||||
Cis* | 6.0 × 10−10 | 5.3 × 10−6 | Neurogenic locus notch homolog protein 1 (NOTCH1) | |||||
354 | ABOac, SURF6c | rs8176720 | 9 | 136,132,873 | Trans | 7.4 × 10−10 | 6.8 × 10−8 | Insulin receptor (INSR) |
