Confirmation of the genetic association of CTLA4 and PTPN22 with ANCA-associated vasculitis

BMC Medical Genetics

Table 1 Allele association testing in AAV of 11 SNPs at 10 loci

Chr	Gene	SNP	Controls n = 9115		Vasculitis cases n = 641
			MAF	MAF	Pvalue	OR (95% CI)
1p13	PTPN22	rs2476601 G>A (R620W)	0.10	0.13	1.4 × 10^-4	1.40 (1.18 - 1.67)
2q24	IFIH1	rs1990760 T>C (A946T)	0.39	0.40	0.47	1.05 (0.93 - 1.18)
2q33	CTLA4	rs3087243 G>A	0.45	0.41	6.4 × 10^-3	0.84 (0.75 - 0.95)
4q27	IL2	rs2069763 G>T	0.32	0.31	0.51	0.95 (0.82 - 1.10)
12q13	CYP27B1	rs10877012 G>T	0.33	0.32	0.34	0.93 (0.82 - 1.07)
12q13	ERBB3	rs2292239 A>C	0.35	0.35	0.75	0.97 (0.86 - 1.11)
12q24	SH2B3	rs3184504 C>T (R292W)	0.48	0.49	0.56	1.04 (0.92 - 1.17)
16p13	CLEC16A	rs12708716 A>G	0.35	0.36	0.24	1.08 (0.95 - 1.22)
18p11	PTPN2	rs1893217 T>C	0.17	0.19	0.19	1.12 (0.95 - 1.31)
18p11	PTPN2	rs478582 T>C	0.45	0.43	0.26	0.93 (0.83 - 1.05)
18q22	CD226	rs763361 C>T (G307S)	0.49	0.47	0.21	0.90 (0.77 - 1.06)

Chromosome is abbreviated to Chr; minor allele frequency is MAF; odds ratio is OR and confidence interval is CI.

ISSN: 1471-2350