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. 2018 Jun 29;12:70–85. doi: 10.2174/1874312901812010070

Table 1.

Summary of BD associated genes

Category Gene Variant Location Associated allele Strongest p value OR Population - Reference
- - - - - - - Discovery Replication 16-33
HLA and related genes HLA HLA-B 51 6.8*10-32 20.64 Japanese Spanish,
Chinese,
Korean,
Italian,
Turkish,
Ireland,
Russia,
Germen,
Greek,
Saudi,
Iranian,
Jordanian,
Tunisian,
Israeli
15 0.03 0.254 Saudi Spanish 26,33
18 0.02 0.58 Spanish - 26,28
27 0.003 5.59 Moroccan - 30
35 2.46*10-8 0.58 Spanish - 26,28
49 2.46*10-8 0.7 Spanish - 26
57 1.02*10-5 2.8 Spanish - 26,28
58 0.007 0.1 Spanish - 28
HLA-A 2 0.003 1.47 Spanish Korean 26,28,36
3 0.003 0.53 Spanish - 26,28
24 0.01 1.7 Spanish - 28
26 0.025 3.87 Spanish Saudi,
Japanese,
Korean		 26,32,33,34,35,36
30 0.003 7.53 Korean Spanish 26,36
31 0.089 4.06 Spanish - 26,33
CIITA rs12932187 Intron C 0.01668 0.713 Han Chinese - 39
ERAP1 rs10050860 Exon C 1.1*10-5 0.54 Han Chinese - 41
rs17482078
(Arg725Gln)		 Exon C 4.73*10-11 4.56 Turkish Iranian 40,100
rs1065407 3’-UTR A 8.5*10-8 0.51 Han Chinese - 41
MICA - Exon MICA*009 0.0009 2.82 Spanish - 42
*019 0.0007 6.48 Spanish - 42
A5.1 <0.001 0.18 Korean - 49,50
A6 6*10-5 2.47 Japanese Korea,
Jordanian,
Greek		 47,48,49,51
A9 0.0009 2.82 Japanese - 51
IL family genes IL10 rs1518111 Intron A 1.88*10-8 1.41 Turkish Iranian,
Korean,
Japanese,
Chinese		 56,68,70
rs1800871 Upstream T 1.0*10−14 1.45 Japanese Turkish,
Korean,
Han Chinese,
Western Algeria		 55,57,66,69,70
IL family genes IL10 rs1800872 Upstream A 2.1*10−14 1.64 Japanese Turkish,
Korean,
Han Chinese,
Western Algeria		 55,57,66,69,70
rs1554286 Intron T 3.15*10-5 0.558 Iranian Korean,
Han Chinese		 55,66,68,70
IL12A rs17810546 Intron G 1.12*10-10 1.66 Turkish,
Mixed population		 - 41,61
rs17810458 Intron G 1.20*10-5 1.64 Turkish European 61
IL23R-IL12RB2 rs1495965 Intergenic G 1.9*10-11 1.35 Japanese Turkish,
Iranian,
Korean		 57,68,70
rs924080 Intergenic T 2.52*10-4 1.58 Turkish Japanese,
Han Chinese,
Korean,
Iranian,
Western Algeria		 56,67-70
rs11209032 Intergenic A 3.46 *10-4 1.45 Han Chinese Western Algeria 67,69
rs17375018 Intron G 0.017 1.51 Iranian - 68
rs7517847 Intron T 1.96*10-6 1.48 Iranian - 68
rs10489629 Intron G 0.0017 0.77 Iranian - 68
rs1966176 Intron G 0.0026 1.8 Korean - 70
IL23R rs11209026 (Arg381Gln ) Exon Gln 8.49*10−9 0.68 Turkish,
Japanese		 - 65
rs76418789 (Gly149Arg) Exon Arg 0.022 0.54 Turkish,
Japanese		 - 65
Genes involved in inflammation and autoimmunity MEFV rs61752717 (Met694Val) Exon Val 1.79*10−12 2.65 Mixed
populations		 Turkish,
Spanish,
Greek		 65,73-76
rs28940580 (Met680Ile) Exon Ile 0.046 1.74 Turkish Spanish,
Greek		 65,74-76
rs3743930 (Glu148Gln) Exon Gln 0.001 3.6 Mixed
populations		 Turkish,
Spanish,
Greek		 65,73-75
IRF8 rs17445836 Downstream G 9.56*10-8 2.044 Han Chinese - 79
rs11642873 Downstream A 9.24*10-7 1.776 - 79
rs11117433 Intron C 1.67*10-6 0.63 Turkish Iranian,
Japanese		 80
rs142105922 Intergenic A 5.58*10-6 0.63
rs7203487 Intergenic C 1.1*10-6 1.38 Iranian
TNFAIP3 rs9494885 Intergenic C 8.35*10-10 1.81 Han Chinese - 85
rs10499194 Intergenic T 0.015 1.96 85
rs7753873 Intergenic C 0.015 1.49 85
REL rs842647 Intron G 0.0074 1.57 Chinese - 90
TLR4 rs4986790 (Asp299Gl) Exon G 8.0*10-12 0.64 Japanese Turkish, Korean, Chinese 65,93,94
rs4986791 (Thr399Ile) Exon T 8.0*10-12 0.82 Japanese 65,93,94
rs7037117 3’-UTR A 0.009 1.64 Japanese Korean 92-94
TLR2 rs2289318 Intron C 6.99*10-6 1.47 Chinese - 94
rs3804099 Exon C 2.43*10-6 0.626 Chinese - 94
NOD1 rs2075818 Exon G 0.0102 0.536 Han Chinese - 39
Genes involved in inflammation and autoimmunity NOD2 rs2066844 (Arg702Trp) Exon Arg 1.35*10−5 0.4 Caucasians Japanese, Turkish, Spanish 65,100,102
rs2066847 (Leu1007fs) Exon C 0.0069 0.38 Japanese, Turkish 65,100
rs2066845 (Gly908Arg) Exon Gly NA NA Japanese, Turkish 65
CCR1 and CC1/CCR3 rs13084057 Intron G 1.71*10-7 0.32 Han Chinese - 103
rs13075270 Intron C 2.76*10-7 0.32
rs13092160 Intron C 6.50*10-8 0.28
rs7616215 Intron T 5.05*10-19 0.66 Turkish, Japanese Iranian 40,104
GIMAP1 rs2286900 Intron A 9.22*10−6 1.81 Korean, Japanese - 107
GIMAP2 rs10266069 Upstream A 2.57*10−5 1.83 Korean, Japanese -
rs10256482 Upstream T 2.82*10−5 1.83 -
GIMAP4 rs1916012 Upstream A 2.62*10−2 1.61 Korean, Japanese -
rs1522596 Upstream A 3.43*10−7 2.38 -
rs1608157 Intron C 6.01*10−8 2.53 -
KLRC4 rs2617170 Exon T 7.98*10-7 0.71 Turkish, Japanese Iranian 40,104
Genes involved in transcription activation of immune regulation STAT4 rs7572482 Intron T 9.77 *10-5 1.68 Han Chinese - 112
rs7574070 Intron T 1.92*10−5 1.27 Turkish Iranian 40,104,112
rs897200 Intron A 5.88 *10-5 1.7 Han Chinese - 112
NCOA5 rs2903908 Intron T 0.016 1.46 Mixed populations - 115
FOXP3 rs3761548 Intron A 0.002 3.841 Iranian - 118
Others PSORS1C1 rs12525170 Intron G 3.01*10-26 3.01 Turkish, Italian - 124
FUT2 rs632111 3’-UTR G 2.09*10-5 1.32 Iranian Turkish 128
rs601338 Exon A 1.18*10-5 1.34
rs602662 Exon A 2.97*10-6 1.35
rs492602 Exon C 4.86*10-5 1.31
rs681343 Exon T 7.27*10-6 1.36
rs281377 Exon C 1.34*10-4 1.3
UBAC2 rs9513584 Intron G 0.0058 1.61 Turkish Han Chinese 130,132
rs7999348 Intron G 0.00058 1.84 Turkish - 132
rs3825427 Intron T 6.9*10-6 1.5 Han Chinese - 132
rs9517668 Intron T 3.3*10-4 1.4 Han Chinese - 132
rs9517701 Intron G 2.9*10-5 1.4 Han Chinese - 132
rs9517723 Intron T 0.0024 1.56 Japanese - 133
SUMO4 rs237024 Intron A 0.0002 1.7 Han Chinese Tunisian, Korean 136-138
rs237026 Intron C 0.03 1.41 136,137
ADO-EGR2 rs7075773 Intergenic C 2.96*10−9 0.71 Turkish - 80
rs224127 Intergenic A 1.56*10-6 1.26 Iranian, Japanese
rs1509966 Intergenic A 1.47*10-6 0.8
CEBPB-PTPN1 rs913678 Intergenic C 1.1*10-9 1.33 Turkish Iranian 80
JPKL-CNTN5 rs2848479 Intergenic A 3.29*10-10 1.66 Spanish - 26
Consider changing to “related genes“