The contribution of genetic variation and infection to the pathogenesis of ANCA-associated systemic vasculitis

Willcocks, Lisa C; Lyons, Paul A; Rees, Andrew J; Smith, Kenneth GC

doi:10.1186/ar2928

Arthritis Research & Therapy

Table 1 Positive genetic association studies in anti-neutrophil cytoplasmic antibody-associated systemic vasculitis

From: The contribution of genetic variation and infection to the pathogenesis of ANCA-associated systemic vasculitis

Gene	Population origin	Cases	Controls	Odds ratio	Pvalue	Reference
HLA DPB10401*	Germany	150 WG	100	3.9	1.5 × 10^-10	[21]
HLA DPB10401*	Germany	282 WG	380		6.4 × 10^-8	[22]
HLA B50	North America, Caucasian	83 WG	4,039	4.89^a	<0.0001	[18]
HLA DR9	North America, Caucasian	76 WG	4,039	4.00^a	0.005	[18]
HLA DQw7	UK	34 WG, 25 MPA	1,103	2.9	<0.0025	[19]
HLA DR3	UK	34 WG, 25 MPA	1,103	0.31	<0.01	[19]
HLA DR1	UK	27 WG	500 to 2,000?	2.3	0.0001	[20]
HLA DR4	The Netherlands	304 (241 WG, 30 MPA, 12 CSS, 21 RLV)	9,872	1.7	<0.0001	[23]
HLA DR6	The Netherlands	304 (241 WG, 30 MPA, 12 CSS, 21 RLV)	9,872	0.3	<0.0001	[23]
HLA DRB4	Italy	48 CSS	350	2.49	2.3 × 10^-4	[25]
HLA DRB3	Italy	48 CSS	350	0.54	0.028	[25]
HLA DRB4	Germany	102 CSS	341	1.87	2 × 10^-4	[24]
HLA DRB3	Germany	102 CSS	341	0.61	0.004	[24]
PTPN22-620W	Germany	199 WG	399	1.8	0.002	[41]
PTPN22-620W	UK	641 (WG, MPA and CSS)	9,115	1.4	1.4 × 10^-4	[43]
IL-2RA rs41295061	UK	675 (WG, MPA and CSS)	8,936	0.77	0.012	[42]
CTLA4-318T	Sweden	32 WG	122	3.26	<0.05	[46]
CTLA4 +49G	The Netherlands	50 WG, 24 MPA, 7 CSS, 21 RLV	188	1.32	0.01	[48]
CTLA4 rs3087243	UK	641 (WG, MPA and CSS)	9,115	1.19	6.4 × 10^-3	[43]
PRTN3-564G	Germany	66 WG	106	0.5	<0.01	[30]
AAT Z allele	Italy	33 WG, 28 MPA, 23 RLV	200	3.7^a	0.022	[36]
AAT Z allele	Austria	29 WG, 2 MPA, 1 RLV	868	13.2	<0.0001	[37]
AAT Z allele	Germany	79 WG	752	3.8^a	<0.0001	[35]
AAT Z allele	Sweden	88 (66 WG)	?	6.0	<0.0001	[95]
AAT Z allele	Scandinavia	44 WG	?	?	<0.001	[34]
C3F	Sweden	34 WG, 33 MPA	101	0.52	<0.05	[58]
CD18 Ava II	Germany	31 MPO positive	120	2.56	<0.005	[57]
IL-10 microsatellite	Sweden	32 WG	109	7.94	<0.0032	[51]
IL-10 (-1082) AA genotype	Germany	125 WG, 36 MPA	153	0.30	<0.0001	[52]
IL-10 haplotype	Germany	103 CSS	507	2.16	0.0003	[53]
LILRA2 intron 6	Japan	50 MPA	284	2.52	0.049	[54]
AA genotype
CD226 rs763361	Germany	642 WG	1226	1.20	0.016	[56]
FCGR2A R131	The Netherlands	91 WG	154	4.60	0.0092	[64]
RR genotype with FCGR3A F158 FF
FCGR3B copy number high	UK	556 (WG, MPA and CSS)	286		1 × 10^-8	[74]
FCGR3B copy number low	UK	80 WG	190		0.003	[73]
FCGR3B copy number low	UK	76 MPA	190		0.0003	[73]
FCGR3B copy number low	France	84 WG	181		0.0001	[73]

CSS, Churg-Strauss syndrome; MPA, microscopic polyangiitis; MPO, myeloperoxidase; RLV = renal-limited vasculitis; WG, Wegener's granulomatosis. ^aNo odds ratio given in the reference; values calculated using Graphpad prism, 2 × 2 chi-squared test.

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