Skip to main content
. 2019 Oct 18;10:2416. doi: 10.3389/fimmu.2019.02416

Table 1.

Cell death-related gene variants associated with PF.

Gene SNP MAF (%) Model CONTR CASE OR 95%CI p
Contr Case
APOPTOSIS AND NECROPTOSIS
TNF rs1800630 15.7 26.2 add 61/327 117/329 1.90 [1.34–2.70] 0.0003
6p21.33 C>a rec 7/187 14/209 1.79 [0.70–4.54] 0.2214
Promoter dom 54/140 103/120 2.24 [1.49–3.38] 0.0001
TRAF2 rs10781522 49.2 38 add 191/197 171/279 0.64 [0.48–0.84] 0.0014
9q34.3 g>A rec 47/147 34/191 0.58 [0.35–0.95] 0.0305
Intron 9 dom 144/50 137/88 0.52 [0.34–0.79] 0.0024
APOPTOSIS
PAK2 rs9325377 49.5 42 add 196/192 190/162 0.72 [0.54–0.94] 0.0173
3q29 a>G rec 55/139 36/190 0.47 [0.29–0.77] 0.0023
Intron 1 dom 141/53 154/72 0.81 [0.53–1.25] 0.3449
CD36 rs4112274 7.51 15.27 add 29/357 69/383 2.14 [1.33–3.44] 0.0015
7q21.11 C>t rec 1/192 5/221 3.92 [0.45–34.2] 0.2169
Intron 3 dom 28/165 64/162 2.23 [1.34–3.68] 0.0018
IMMUNOGENIC
EIF2AK3 rs10167879 17.6 9.9 add 67/313 43/393 0.48 [0.31–0.73] 0.0007
2p11.2 C>t rec 5/185 4/214 0.62 [0.16–2.40] 0.4940
Intron 14 dom 62/128 39/179 0.41 [0.26–0.66] 0.0002
SIRPA rs6075340 33.5 42.1 add 130/258 191/263 1.50 [1.13–2.00] 0.0055
20p13 a>G rec 17/177 47/180 2.75 [1.51–4.98] 0.0009
Intron 2 dom 113/81 144/83 1.35 [0.90–2.02] 0.1449
CD47 rs12695175 11.4 17.9 add 44/342 81/371 1.77 [1.20–2.63] 0.0043
3q13.12 T>g rec 4/189 10/216 2.23 [0.68–7.30] 0.1850
Intron 6 dom 40/153 71/155 1.95 [1.23–3.07] 0.0041
NECROSIS
RAPGEF3 rs10747521 40.1 36.7 add 155/231 165/285 0.81 [0.61–1.1] 0.1676
12q13.11 a>G rec 36/157 23/202 0.42 [0.23–0.76] 0.0040
Intron 1 dom 155/231 165/285 1.03 [0.20–0.69] 0.8837
PARTHANATOS
HK1 rs7072268 43.0 53.1 add 167/221 241/213 1.48 [1.13–1.94] 0.0045
10q22.1 t>C rec 37/157 70/157 1.57 [1.02–2.42] 0.0412
Intron 5 dom 130/64 171/56 1.87 [1.18–2.95] 0.0076
PYROPTOSIS
PRKN rs9355950 34.3 22.9 add 133/255 104/350 0.57 [0.42–0.78] 0.0004
6q26 T>c rec 25/169 11/216 0.35 [0.16–0.73] 0.00502
Intron 4 dom 108/86 93/134 0.55 [0.37–0.81] 0.0024

Logistic regression association tests were done with allele frequencies (“add”), frequency of homozygotes for the minor allele (“rec”- recessive model), and summed frequencies of heterozygotes and homozygotes for the minor allele (“dom”—dominant model). The minor alleles in our sample are given in lowercase; they are the reference for the associations. In bold, significant associations (p < 0.005). SNP, single nucleotide polymorphism; MAF, minor allele frequency; CONTR, controls; CASE, cases; Model, association tests; OR, odds ratio; CI, confidence interval; TNF, tumor necrosis factor alpha; TRAF2, TNF receptor associated factor 2; PAK2, p21 (RAC1) activated kinase 2; CD36, CD36 molecule; EIF2AK3, eukaryotic translation initiation factor 2 alpha kinase 3 (also known as PERK); SIRPA, signal regulatory protein alpha; CD47, CD47 molecule; RAPGEF3, Rap guanine nucleotide exchange factor 3 (also known as EPAC); HK1, hexokinase 1; PRKN, parkin RBR E3 ubiquitin protein ligase (also known as PARK2).