Genetic variants in the region of the  C 1 q  genes are associated with rheumatoid arthritis | Zendy

Trouw L. A. | Zendy; Daha N. | Zendy; Kurreeman F. A. S. | Zendy; Böhringer S. | Zendy; Goulielmos G. N. | Zendy; Westra H. J. | Zendy; Zhernakova A. | Zendy; Franke L. | Zendy; Stahl E. A. | Zendy; Levarht E. W. N. | Zendy; StoekenRijsbergen G. | Zendy; Verduijn W. | Zendy; Roos A. | Zendy; Li Y. | Zendy; HouwingDuistermaat J. J. | Zendy; Huizinga T. W. J. | Zendy; Toes R. E. M. | Zendy

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Genetic variants in the region of the C 1 q genes are associated with rheumatoid arthritis

Author(s) -

Trouw L. A.,

Daha N.,

Kurreeman F. A. S.,

Böhringer S.,

Goulielmos G. N.,

Westra H. J.,

Zhernakova A.,

Franke L.,

Stahl E. A.,

Levarht E. W. N.,

StoekenRijsbergen G.,

Verduijn W.,

Roos A.,

Li Y.,

HouwingDuistermaat J. J.,

Huizinga T. W. J.,

Toes R. E. M.

Publication year - 2013

Publication title -

clinical & experimental immunology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.329

H-Index - 135

eISSN - 1365-2249

pISSN - 0009-9104

DOI - 10.1111/cei.12097

Subject(s) - single nucleotide polymorphism , genome wide association study , snp , rheumatoid arthritis , locus (genetics) , arthritis , genetic association , genetics , biology , odds ratio , gene , genotype , complement c1q , medicine , immunology , complement system , immune system

Summary Rodent models for arthritis implicate a role for complement in disease development and progression. In humans, complement deposition has been observed in inflamed synovia of rheumatoid arthritis ( RA ) patients. In this study we analysed whether genetic variants of complement component C 1 q predispose to RA . We genotyped single nucleotide polymorphisms ( SNPs ) in and around the C 1 q genes, C 1 qA , C 1 qB and C 1 qC , in a D utch set of 845 RA cases and 1046 controls. Replication was sought in a sample set from N orth A merica (868 cases/1193 controls), and a meta‐analysis was performed in a combined samples set of 8000 cases and 23 262 controls of E uropean descent. We determined C 1 q serum levels in relation to C 1 q genotypes. In the discovery phase, five of the 13 SNP s tested in the C 1 q genes showed a significant association with RA . Additional analysis of the genomic area around the C 1 q genes revealed that the strongest associating SNP s were confined to the C 1 q locus. Within the C 1 q locus we observed no additional signal independent of the strongest associating SNP , rs292001 [odds ratio ( OR ) = 0·72 (0·58–0·88), P = 0·0006]. The variants of this SNP were associated with different C 1 q serum levels in healthy controls ( P = 0·006). Interestingly, this SNP was also associated significantly in genome‐wide association studies ( GWAS ) from the North American Rheumatoid Arthritis Consortium study, confirming the association with RA [ OR = 0·83 (0·69–1·00), P = 0·043]. Combined analysis, including integrated data from six GWAS studies, provides support for the genetic association. Genetic variants in C 1 q are correlated with C 1 q levels and may be a risk for the development of RA .

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