Genome-wide association and targeted analysis of copy number variants with psoriatic arthritis in German patients

BMC Medical Genetics

Table 3 Low-frequency CNVs at psoriasis susceptibility loci in PsA patients (n = 478) and controls (n = 3798) (Ctrl)

nearest gene/ locus	type of aberration	no. of CNV alleles (PsA)	frequency in % (PsA)	validation (no. of PsA patients analyzed by MLPA)	no. of CNV alleles (Ctrl)	frequency in % (Ctrl)	p-value
CSMD1	deletion	1	0.10	validated (7)	7	0.09	1
IL12B	duplication	2	0.21	validated (14)	3	0.04	0.1
RYR2	deletion	2	0.21	validated (7)	12	0.16	0.7
ERAP1	deletion	2	0.21	not validated (7)	1	0.01	n/a
ERAP1	duplication	1	0.10	not validated (7)	4	0.05	n/a
FBXL19	deletion	1	0.10	not validated (14)	0	0	n/a
FBXL19	duplication	2	0.21	not validated (14)	22	0.33	n/a
GJB2	duplication	1	0.10	not validated (14)	1	0.01	n/a
IFIH1	duplication	3	0.31	not validated (14)	6	0.09	n/a
IL23A	duplication	4	0.42	not validated (7)	8	0.12	n/a
NFKBIA	duplication	2	0.21	not validated (14)	6	0.09	n/a
RNF114	duplication	2	0.31	not validated (12)	7	0.09	n/a
TNIP1	duplication	1	0.10	not validated (7)	0	0	n/a
TRAF3IP2	duplication	3	0.31	not validated (12)	7	0.09	n/a

Gene nearest to the susceptibility locus, the type of aberration, the absolute no. of CNV alleles, their overall frequency in percent, the result of a validation by MLPA (in PsA patients only) and the results of a Fisher’s exact test (n/a: not applicable due to lack of validation) are given

ISSN: 1471-2350