Linkage analysis of anti-CCP levels as dichotomized and quantitative traits using GAW15 single-nucleotide polymorphism scan of NARAC familiesReport as inadecuate




Linkage analysis of anti-CCP levels as dichotomized and quantitative traits using GAW15 single-nucleotide polymorphism scan of NARAC families - Download this document for free, or read online. Document in PDF available to download.

BMC Proceedings

, 1:S107

First Online: 18 December 2007DOI: 10.1186-1753-6561-1-S1-S107

Cite this article as: Yang, X.R., Kerstann, K.F., Bergen, A.W. et al. BMC Proc 2007 1Suppl 1: S107. doi:10.1186-1753-6561-1-S1-S107

Abstract

Rheumatoid arthritis is a clinically and genetically heterogeneous disease. Anti-cyclic citrullinated anti-CCP antibodies have a high specificity for rheumatoid arthritis and levels correlate with disease severity. The focus of this study was to examine whether analyzing anti-CCP levels could increase the power of linkage analysis by identifying a more homogeneous subset of rheumatoid arthritis patients. We also wanted to compare linkage signals when analyzing anti-CCP levels as dichotomized CCP binary, categorical CCP cat, and continuous traits, with and without transformation log CCP and CCP cont. Illumina single-nucleotide polymorphism scans of the North American Rheumatoid Arthritis Consortium families were analyzed for four chromosomes 6, 7, 11, 22 using nonparametric linkage NPL rheumatoid arthritis and CCP binary, regress CCP cat and Log CCP, and deviates CCP cont analysis options as implemented in Merlin. Similar linkage results were obtained from analyses of rheumatoid arthritis, CCP binary, and CCP cont. The only exception was that we observed improved linkage signals and a narrower region for CCP binary as compared to a clinical diagnosis of rheumatoid arthritis alone on chromosome 7, a region which previously showed variation in linkage results with rheumatoid arthritis according to anti-CCP levels. Analyses of CCP cat and Log CCP had little power to detect linkage. Our data suggested that linkage analyses of anti-CCP levels may facilitate identification of rheumatoid arthritis genes but quantitative analyses did not further improve power. Our study also highlighted that quantitative trait linkage results are highly sensitive to phenotype transformation and analytic approaches.

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Author: Xiaohong R Yang - Kimberly F Kerstann - Andrew W Bergen - Alisa M Goldstein - Lynn R Goldin

Source: https://link.springer.com/







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