Table 2.
Cell death-related gene variants associated with PF.
| Variant | Allele associated with PF | eQTL effect (25, 29) | Tissues |
|---|---|---|---|
|
TNF_ rs1800630 |
A risk | low expression: TNF (p = 3.71e−21) and LTA (p = 2.88e−24) (36). high expression: DDX39B (p = 2.6e−4), CSNK2B (p = 3.14e−11), HCP5 (p = 2.5e−3) and MICB (p = 2.0e−15) (36). |
Peripheral blood. |
|
TRAF2_ rs10781522 |
G prot | low expression: C8G (p = 2.6e−5), AGPAT2 (p = 9.1e−4), and CLIC3 (p = 4.79e−17) (32, 36). high expression: TRAF2 (p = 2.73e−4), PHPT1 (p = 1.2e−6) |
Skin, peripheral blood, muscle. |
|
PAK2_ rs9325377 |
A prot | low expression: PAK2 (p = 1.2e−6) (32). high expression: PIGX (p = 9.7e−7). PIGX maps just upstream of PAK2, on the same strand of chromosome region 3q29 (32). |
Skin, spleen. |
|
CD36_ rs4112274 |
T risk | low expression: CD36 (p = 2.37e−29) (36). | Peripheral blood. |
|
EIF2AK3_ rs10167879 |
T prot | low expression: AC062029.1 (p = 3.0e−4) (32) high expression: EIF2AK3 (p = 3.5e−4), ANKRD36BP2 (p = 1.6e−6) (32). |
Skin, whole blood. |
|
SIRPA_ rs6075340 |
A risk | low expression: SIRPA (p = 4.1e−7) (32). high expression: SIRPB1 (p = 6.6e−98) (32). |
Esophagus, skin. |
|
CD47_ rs12695175 |
G risk | low expression: CD47 (p = 3.37e−4) (36). high expression: MYH15 (p = 1.3e−8) (32). |
Peripheral blood, skin. |
|
RAPGEF3_ rs10747521 |
A prot | low expression: RAPGEF3 (p = 2.0 e−8) (32). high expression: PCED1B-AS1 (32). |
Lung, heart. |
|
HK1_ rs7072268 |
T risk | high expression: HK1 (p = 2.3 e−6) (32). | Tibial nerve. |
PRKN_ rs9355950 is not an eQTL.
eQTL, expression quantitative trait loci; LTA, lymphotoxin alpha; DDX39B, dead box polypeptide 39 B; CSNK2B, casein kinase II beta; HCP5, HLA complex P5; MICB, major histocompatibility complex class I-chain related gene B; PHPT1, phosphohistidine phosphatase 1; C8G, complement C8 gamma chain; AGPAT2, 1-acylglycerol-3-phosphate O-acyltransferase 2; CLIC3, chloride intracellular channel 3; PIGX, phosphatidylinositol glycan anchor biosynthesis class X; ANKRD36BP2, ankyrin repeat domain 36B pseudogene 2; SIRPB1, signal regulatory protein beta 1; MYH15, myosin heavy chain 15.