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Table 2 Non-HLA candidate markers tested for association with JIA.

From: A comprehensive review of the genetics of juvenile idiopathic arthritis

Marker ASSN Cases Controls Design NOTES Author ID
ACE Y 82 48 CC Insertion/deletion polymorphism Alsaid [119]
ADAM33 N 86 270 CC   Schubert [120]
ADRB2 N 86 270 CC   Schubert [120]
ADRB2 N 348 448 CC   Pont-Kingdon [121]
Alpha 1 AT Y 96 4565 CC   Arnaud [122]
BV13S2 N 120 500 CC   Epplen [56]
BV62& N 120 500 CC   Epplen [56]
BV6S3 N 120 500 CC   Epplen [56]
CARD15 N 86 270 CC   Schubert [120]
CBG N 463 276 CC   Donn [123]
CCR3 N 86 270 CC   Schubert [120]
CCR5 N 86 270 CC   Schubert [120]
CCR5 Y 819   TDT Protective Prahalad [79]
CCR5 N 524 658 CC   Lindner [80]
CCR5 Y 101 104 CC Positive association in systemic+poly Scheibel [124]
CD3D N 120 500 CC   Epplen [56]
CD40L N 120 500 CC   Epplen [56]
CRH N 463 276 CC   Donn [123]
CSF2 N 86 270 CC   Schubert [120]
CTLA4 Y 197 362 CC   Miterski [59]
CTLA4 N 72 475 CC   Suppiah [125]
CTLA4 N 86 270 CC   Schubert [120]
CTLA4 N 818 518 CC   Prahalad [113]
CTSL2 N 530 559 CC   Viken 2007 [126]
CYP19 N 463 276 CC   Donn [123]
D17S795 N 173 416 CC   Miterski [59]
D17S807 N 172 412 CC   Miterski [59]
D17S821 N 173 412 CC   Miterski [59]
DDR1 N 135 199 TDT   Zeggini [127]
ESR1 N 463 276 CC   Donn [123]
FAS N 342 255 CC   Donn [128]
FCER1B N 86 270 CC   Schubert [120]
FCRL3 Y 524 1030 CC Association seen in poly JIA subset Eike [129]
FGFA N 120 500 CC   Epplen [56]
FOXp3 N 761 402 CC   Eastell [130]
GSTM1 N 103 90 CC   Rohr [131]
GSTP1 N 103 90 CC   Rohr [131]
GSTT1 Y 103 90 CC   Rohr [131]
GZMB N 133 384 CC Only systemic JIA studied Donn [95]
IFNA N 120 500 CC   Epplen [56]
IFNA1 N 417 276 CC   Donn [69]
IFNG N 417 276 CC   Donn [69]
IFNG N 165 395 CC   Miterski [59]
IFNG N 130 103 CC   Cinek [132]
IgA def Y 1673   CC Data derived from several studies. Cassidy [133]
IKBL N 170 389 CC   Miterski [59]
IL1 cluster Y 235 335 CC Only systemic JIA studied. Two stage study Stock [71]
IL1R cluster Y 235 335 CC Only systemic JIA studied. Two stage study Stock [71]
IL1A N 417 276 CC   Donn [69]
IL1A Y 269 99 CC Association with early onset oligo JIA McDowell [68]
IL1A N 130 103 CC   Cinek [132]
IL1A N 120 500 CC   Epplen [56]
IL1B Y 107 630 CC   Cimaz [134]
IL1B N 130 103 CC Non-significant association reported. Cinek [132]
IL1R N 130 103 CC   Cinek [132]
IL1RA N 107 630 CC   Cimaz [134]
IL1RN Y 235 306 CC   Vencovsky [135]
IL2 N 417 276 CC   Donn [69]
IL2 N 86 270 CC   Schubert [120]
IL2 N 130 103 CC   Cinek [132]
IL2 N 120 500 CC   Epplen [56]
IL3 N 86 270 CC   Schubert [120]
IL4 N 417 276 CC   Donn [69]
IL4 N 86 270 CC   Schubert [120]
IL4 N 72 165 CC Trend in female cases Suppiah [136]
IL4 Y 130 103 CC   Cinek [132]
IL4R N 72 165 CC Trend in female cases Suppiah [136]
IL4RA N 130 103 CC   Cinek [132]
IL5RA N 120 500 CC   Epplen [56]
IL6 N 417 276 CC   Donn [69]
IL6 Y 222   TDT Only systemic JIA patients studied Ogilvie [76]
IL6 N 86 270 CC   Schubert [120]
IL6 N 130 103 CC   Cinek [132]
IL8 N 86 270 CC   Schubert [120]
IL10 N 417 276 CC   Donn [69]
IL10 N 86 270 CC   Schubert [120]
IL10 Y 172 473 CC Only systemic JIA patients studied Fife [137]
IL10 N 130 103 CC   Cinek [132]
IL12 N 130 103 CC   Cinek [132]
IL13 N 86 270 CC   Schubert [120]
IL15 Y 107 270 CC   Bierbaum [138]
IL18 N 86 270 CC   Schubert [120]
IL18 Y 33 176 CC   sugiura [139]
IL1A N 417 276 CC   Donn [69]
IL1A Y 269 99 CC Association with early onset oligo JIA McDowell [68]
IL1A N 130 103 CC   Cinek [132]
IL1A N 120 500 CC   Epplen [56]
IL1B Y 107 630 CC   Cimaz [134]
IL1B N 130 103 CC Non-significant association reported. Cinek [132]
IL1R N 130 103 CC   Cinek [132]
IL1RA N 107 630 CC   Cimaz [134]
IL1RN Y 235 306 CC   Vencovsky [135]
IL2 N 417 276 CC   Donn [69]
IL2 N 86 270 CC   Schubert [120]
IL2 N 130 103 CC   Cinek [132]
IL2 N 120 500 CC   Epplen [56]
IL3 N 86 270 CC   Schubert [120]
IL4 N 417 276 CC   Donn [69]
IL4 N 86 270 CC   Schubert [120]
IL4 N 72 165 CC Trend in female cases Suppiah [136]
IL4 Y 130 103 CC   Cinek [132]
IL4R N 72 165 CC Trend in female cases Suppiah [136]
IL4RA N 130 103 CC   Cinek [132]
IL5RA N 120 500 CC   Epplen [56]
IL6 N 417 276 CC   Donn [69]
IL6 Y 222   TDT Only systemic JIA patients studied Ogilvie [76]
IL6 N 86 270 CC   Schubert [120]
IL6 N 130 103 CC   Cinek [132]
IL8 N 86 270 CC   Schubert [120]
IRF1 Y 417 276 CC   Donn [69]
IRF1 N 765 508 CC   Fife [140]
IRF2 N 120 500 CC   Epplen [56]
LMP 7 Y 207 50 CC   Prahalad [141]
MBL N 93 48 CC   Kang [142]
MCP1 N 86 270 CC   Schubert [120]
MCP1 N 66 150 CC   Ozyurek [143]
MEFV Y 71 100 CC Included 12 subjects with vasculitis Ozen [144]
MEFV Y 950 728 CC Association in psoriatic JIA after correction for multiple testing Day [145]
MHC2TA Y 74 316 CC   O'Doherty [146]
MICA Y 128 113 CC Association with A4 allele Nikitina Zake [147]
MIF Y 526 259 CC   Donn [60]
MIF N 150 390 CC   Miterski [59]
MIF Y 224 341 CC Association with allele 05 Miterski [59]
MIF Y 321   TDT   Donn [61]
MIF N 86 270 CC   Schubert [120]
MIF N 67 153 CC   Berdeli [62]
MTHFR N 56 62 CC   Huemer [148]
MTR N 56 62 CC   Huemer [148]
MTRR N 56 62 CC   Huemer [148]
NLP3 Y 950 728 CC Association in psoriatic JIA after correction for multiple testing Day [145]
NOD2 N 950 728 CC Association in psoriatic JIA before correction for multiple testing Day [145]
NOS33 N 86 270 CC   Schubert [120]
Osteopontin N 119 200 CC Oligo JIA only. Marciano [149]
PAFAH N 86 270 CC   Schubert [120]
PRF1 N 133 384 CC Only systemic JIA studied Donn [95]
PRL N 463 276 CC   Donn [123]
PSTPIP1 N 950 728 CC Association in psoriatic JIA before correction for multiple testing Day [145]
PTPN22 Y 661 595 CC   Hinks [84]
PTPN22 N 230 1400 CC   Seldin [85]
PTPN22 Y 320 555 CC   Viken [86]
PTPN22 Y 130 400 CC   Cinek [87]
PTPRC N 161 362 CC   Miterski [59]
Rab27a N 133 384 CC Only systemic studied Donn [95]
RANTES N 86 270 CC   Schubert [120]
SELP N 86 270 CC   Schubert [120]
SH2D2A Y 210 558 CC   Smerdel [150]
SLC11A1 Y 119 111 CC Also named NRAMP1 Sanjeevi [66]
SLC11A1 Y 234 639 TDT   Runstadler [67]
SLC26A2 Y 826 617 CC Association seen only in systemic jia Lamb [151]
SUMO4 N 668 484 CC   Gibbons [152]
TAP Y 285 165 CC Despite correcting for HLA Ploski [153]
Tapasin Y 156   TDT Only systemic studied Bukulmez [154]
TCRBv6.1 Y 126 207 CC Association in HLADQA1*0101 positive subjects Maksymowych [155]
TCRBv6.1 N 77 40 CC only HLADQA1*0101 positive subjects Ploski [156]
TCRBv6.1 N 120 500 CC   Epplen [56]
TCRDVAJ N 120 500 CC   Epplen [56]
TEA N 120 500 CC   Epplen [56]
TGFB1 N 130 103 CC   Cinek [132]
TLR4 N 313   TDT   Lamb [157]
TLR4 N 86 270 CC   Schubert [120]
TLR9 N 86 270 CC   Schubert [120]
TNFA Y 128 114 CC Association with A2 allele Nikitina Zake [147]
TNFA Y 142 388 CC Association with allele 6 Miterski [59]
TNFA N 170 415 CC   Miterski [59]
TNFA Y 228 196 CC Association in psoriatic, RF-negative subtypes Schmeling [58]
TNFA N 86 270 CC   Schubert [120]
TNFA N 55 68 CC Difference between oligo and systemic Modesto [158]
TNFA N 107 630 CC   Cimaz [134]
TNFA Y 120 500 CC Microsatellite Epplen [56]
TNFB N 128 114 CC   Nikitina Zake [147]
TNFB N 86 270 CC   Schubert [120]
TNFR1 N 132 334 CC   Miterski [59]
TNFR2 N 435 261 CC   Zeggini [159]
TNFR2 N 146 428 CC   Miterski [59]
TRAF1 Y 67 1952 CC Subjects genotyped as part of genome-wide association Behrens [160]
UNC13D N 133 384 CC Only systemic JIA studied Donn [95]
WISP3 Y 159 263 CC   Lamb [77]
WISP3 Y 181 355 CC Replication study Lamb [77]
  1. Marker: Gene or locus studied for association. Assn: Association; CC: case-control; TDT: transmission-disequilibrium testing.