The association of MEFV gene mutations with the disease risk and severity of systemic juvenile idiopathic arthritis

Table 2 The Allelic Frequency of MEFV mutations or variants in the current study

Mutation or variants	sJIA patients(n = 57)		Controls(n = 2573)		OR	95%CI
Mutation or variants	mutated allele	wide type allele	mutated allele	wide type allele	OR	95%CI
E148Q	26	88	1326	3820	0.85	0.55–1.32
L110P	4	110	337	4809	0.52	0.19–1.42
R202Q	6	108	191	4955	1.44	0.63–3.32
G304R	1	113	70	5076	0.64	0.09–4.66
P369S	5	109	356	4790	0.62	0.25–1.52
R408Q	4	110	249	4897	0.72	0.26–1.96
c.1759 + 8c > t	8	106	521	4625	0.67	0.32–1.38

R202Q, G304R, and c.1759 + 8c > t were regarded as benign or likely benign variants while other variants in the table were categorized as variants of uncertain significance according to the new workflow of International Study Group for Systemic Autoinflammatory Diseases
Abbreviation: sJIA systemic juvenile idiopathic arthritis

ISSN: 1546-0096