Absolute quantification reveals the stable transmission of a high copy number variant linked to autoinflammatory disease

Table 2 Risk- and odds-ratio test results for the disease associated allele (CNV_16.1, allele 5) and control group C1

Risk Allele		SPAID		Fever		Arthritis		Vesicular Hyaluronosis		Otitis		Amyloidosis^a
CNV_16.1\|5	Risk	1.31	1.17–1.46	1.33	1.12–1.58	1.32	1.11–1.57	1.33	1.11–1.59	1.39	1.17–1.66	1.04	0.90–1.20
	Odds	4.10	2.48–6.74	4.26	2.19–8.30	3.97	1.94–8.11	4.20	1.78–9.89	7.65	2.47–23.71	1.52	0.38–6.09
	p-value	<0.0001		<0.0001		0.0002		0.0010		0.0001		0.7163

^aC3 and not C1 (SPAID negative) allele counts were used for the comparison to the Amyloidosis subphenotype as C1 individuals were not all assessed for the absence of amyloid deposits in kidney tissues. Fisher two tailed exact probability test was used to calculate significance using allele counts from Table 1

ISSN: 1471-2164