Autoinflammatory gene polymorphisms and susceptibility to UK juvenile idiopathic arthritis

Table 2 MVK SNPs investigated for association in the US cohort

SNP	CHR	Position	Gene	Major allele (allele 1)	Minor allele (allele 2)	MAF Case	MAF Control	pHWE Control	Case genotype frequencies			Control genotype frequencies				Odds ratio 95% CI
SNP	CHR	Position	Gene	Major allele (allele 1)	Minor allele (allele 2)	MAF Case	MAF Control	pHWE Control	1/1 (%)	1/2 (%)	2/2 (%)	1/1 (%)	1/2 (%)	2/2 (%)	p-value	Odds ratio 95% CI
rs888193*	12	109987576	MVK	G	C	0.25	0.26	0.22	450	313	41	1679	1148	220	0.22	0.92
rs888193*	12	109987576	MVK	G	C	0.25	0.26	0.22	(56.0)	(38.9)	(5.1)	(55.1)	(37.7)	(7.2)	0.22	0.81-1.05
rs7957619	12	110013879	*MVK*	G	A	0.10	0.12	0.67	653	150	9	2358	650	48	0.04	0.83
rs7957619	12	110013879	*MVK*	G	A	0.10	0.12	0.67	(80.4)	(18.5)	(1.1)	(77.2)	(21.3)	(1.6)	0.04	0.7-0.99

* rs888193 is a perfect proxy (r²=1) for rs11836136.
CHR=chromosome, MAF=minor allele frequency, CI=confidence interval, pHWE=p-value for departure from Hardy-Weinburg equilibrium.

ISSN: 1546-0096