A comprehensive review of the genetics of juvenile idiopathic arthritis

Prahalad, Sampath; Glass, David N

doi:10.1186/1546-0096-6-11

Pediatric Rheumatology

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]

Marker: Gene or locus studied for association. Assn: Association; CC: case-control; TDT: transmission-disequilibrium testing.

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ISSN: 1546-0096

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