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

Steffen UebeMaria EhrlicherArif Bülent EkiciFrank BehrensBeate BöhmGeorg HomuthClaudia SchurmannUwe VölkerMichael JüngerMatthias NauckHenry VölzkeHeiko TraupeMichael KrawczakHarald BurkhardtAndré ReisUlrike Hüffmeier
Published in: BMC medical genetics (2017)
Although we identified PsA associations at several loci and confirmed that the common CNVs at these sites were real, ~1/3 of the common CNV states could not be reproduced. Furthermore, replication analysis failed to confirm the original association. Furthermore, SNP array-based analyses of CNVs were found to be more reliable for deletions than duplications, independent of the respective CNV allele frequency. CNVs are thus good candidate disease variants, while the methods to detect them should be applied cautiously and reproduced by an independent method.
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