Association analysis of the CCL3L1 copy number locus by paralogue ratio test in Norwegian rheumatoid arthritis patients and healthy controls.

Autor: Nordang GB; Department of Medical Genetics, University of Oslo and Oslo University Hospital, Oslo, Norway., Carpenter D, Viken MK, Kvien TK, Armour JA, Lie BA
Jazyk: angličtina
Zdroj: Genes and immunity [Genes Immun] 2012 Oct; Vol. 13 (7), pp. 579-82. Date of Electronic Publication: 2012 Jul 12.
DOI: 10.1038/gene.2012.30
Abstrakt: Genotyping of multiallelic copy number variants (CNVs) is technically difficult and can lead to inaccurate conclusions. This is reflected by inconsistent results published for the CNV C-C chemokine ligand 3-like 1 (CCL3L1) and its contribution to rheumatoid arthritis (RA) susceptibility. In order to draw robust conclusions about CCL3L1 involvement in RA, we have performed association analysis (CNVtools) using genotyping by the paralogue ratio test of a Norwegian RA case-control material (N=1877). We also analyzed the associations after stratification for anti-citrullinated peptide antibody (ACPA) status. Clear clusters representing specific copy number classes were evident, but significant differential bias was observed resulting in a systematic trend toward slightly higher apparent copy number for cases relative to controls. Controlling for bias revealed no significant differences in copy number distribution either between all patients and controls, or after ACPA stratification. Our results do not support involvement of the CCL3L1 CNV in RA susceptibility.
Databáze: MEDLINE