FCRL3 gene polymorphisms contribute to the radiographic severity rather than susceptibility of rheumatoid arthritis

Han, Seong Woo; Hee, Keum; Kim, Sung Il; Lee, Sang Il; Park, Yong Wook; Lee, Shin Seok; Yoo, Wan Hee; Kang, Jin Young; Soe, Jin; Nam, Eon Jeong; Lee, Jongmin; Park, Jae Yong; Kang, Young Mo

doi:10.1016/j.humimm.2012.02.011

Cited by 14 publications

(5 citation statements)

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“…Rs2900180 in C5-TRAF1 was identified in a cross-sectional study [ 8 ]; it was also found significant in another UK cohort [ 9 ], but not in other datasets [ 4 ]. Rs7528684 in FCRL3 was observed as a severity factor in two studies [ 10 , 11 ], although the association was once restricted to the subgroup with a disease duration of at least 10 years [ 11 ] and not found in other datasets [ 4 , 12 ].…”

Section: Introductionmentioning

confidence: 99%

A genetic study on C5-TRAF1 and progression of joint damage in rheumatoid arthritis

Steenbergen¹,

Rodríguez‐Rodríguez²,

Berglin³

et al. 2015

Arthritis Res Ther

134

108

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IntroductionThe severity of joint damage progression in rheumatoid arthritis (RA) is heritable. Several genetic variants have been identified, but together explain only part of the total genetic effect. Variants in Interleukin-6 (IL-6), Interleukin-10 (IL-10), C5-TRAF1, and Fc-receptor-like-3 (FCRL3) have been described to associate with radiographic progression, but results of different studies were incongruent. We aimed to clarify associations of these variants with radiographic progression by evaluating six independent cohorts.MethodsIn total 5,895 sets of radiographs of 2,493 RA-patients included in six different independent datasets from the Netherlands, Sweden, Spain and North-America were studied in relation to rs1800795 (IL-6), rs1800896 (IL-10), rs2900180 (C5-TRAF1) and rs7528684 (FCRL3). Associations were tested in the total RA-populations and in anti-citrullinated peptide antibodies (ACPA)-positive and ACPA-negative subgroups per cohort, followed by meta-analyses. Furthermore, the associated region C5-TRAF1 was fine-mapped in the ACPA-negative Dutch RA-patients.ResultsNo associations were found for rs1800795 (IL-6), rs1800896 (IL-10) and rs7528684 (FCRL3) in the total RA-population and after stratification for ACPA. Rs2900180 in C5-TRAF1 was associated with radiographic progression in the ACPA-negative population (P-value meta-analysis = 5.85 × 10−7); the minor allele was associated with more radiographic progression. Fine-mapping revealed a region of 66Kb that was associated; the lowest P-value was for rs7021880 in TRAF1. The P-value for rs7021880 in meta-analysis was 6.35 × 10−8. Previous studies indicate that the region of rs7021880 was associated with RNA expression of TRAF1 and C5.ConclusionVariants in IL-6, IL-10 and FCRL3 were not associated with radiographic progression. Rs2900180 in C5-TRAF1 and linked variants in a 66Kb region were associated with radiographic progression in ACPA-negative RA.Electronic supplementary materialThe online version of this article (doi:10.1186/s13075-014-0514-0) contains supplementary material, which is available to authorized users.

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Section: Introductionmentioning

confidence: 99%

A genetic study on C5-TRAF1 and progression of joint damage in rheumatoid arthritis

Steenbergen¹,

Rodríguez‐Rodríguez²,

Berglin³

et al. 2015

Arthritis Res Ther

134

108

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“…For HWE analysis of case-control studies in the STATA software, genotypic counts of the case and control groups should be listed following the <genhwcci> command. For example, in Table 1 of the article by Song et al [ 18 ], the genotypic counts for TT, TC, and CC in one of the 15 studies (Han et al [ 27 ]) were 132, 180, and 65 in the case groups and 51, 133, and 114 in the control groups, respectively. Figure 1 shows the results of entering <genhwcci 132 180 65 51 133 114, binvar label (TT, TC, CC)> into the software.…”

Section: Process Of Genome-wide Meta-analysismentioning

confidence: 99%

“…Add the frequencies for the case and control groups of each article according to each model before performing the meta-analyses. For example, in the study by Han et al [ 27 ], multiply CC and TT by two and add TC to each value for an allelic contrast (C vs. T) ( Figure 1 ). In other words, the C for the case group becomes 310 (=65 [CC]×2+180 [TC]), and T becomes 444 (=132×2+180).…”

Section: Process Of Genome-wide Meta-analysismentioning

confidence: 99%

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Meta-analysis for genome-wide association studies using case-control design: application and practice

et al. 2016

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This review aimed to arrange the process of a systematic review of genome-wide association studies in order to practice and apply a genome-wide meta-analysis (GWMA). The process has a series of five steps: searching and selection, extraction of related information, evaluation of validity, meta-analysis by type of genetic model, and evaluation of heterogeneity. In contrast to intervention meta-analyses, GWMA has to evaluate the Hardy–Weinberg equilibrium (HWE) in the third step and conduct meta-analyses by five potential genetic models, including dominant, recessive, homozygote contrast, heterozygote contrast, and allelic contrast in the fourth step. The ‘genhwcci’ and ‘metan’ commands of STATA software evaluate the HWE and calculate a summary effect size, respectively. A meta-regression using the ‘metareg’ command of STATA should be conducted to evaluate related factors of heterogeneities.

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“…The −169C > T promoter SNP in FCRL3 is associated with RA in Caucasians and Chinese (Thabet et al 2007 ; Eike et al 2008 ; Maehlen et al 2011 ; Wu et al 2010 ), with JIA in Mexicans (Ramirez-Bello et al 2013 ), and with JIA in Norwegian patients (Eike et al 2008 ). This SNP has been correlated with increased FCRL3 surface expression on Tregs of patients with erosive RA (Bajpai et al 2012 ), and the −169CC genotype may be correlated with radiographic severity in Korean RA patients (Han et al 2012 ). A more detailed review of Fc receptor associations and reheumatoid arthritis is discussed in Chapter XX.…”

Section: Human Fcr Polymorphisms: Association With Diseasesmentioning

confidence: 99%

Human FcR Polymorphism and Disease

Gibson

Kimberly

2014

Fc Receptors

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Fc receptors play a central role in maintaining the homeostatic balance in the immune system. Our knowledge of the structure and function of these receptors and their naturally occurring polymorphisms, including single nucleotide polymorphisms and/or copy number variations, continues to expand. Through studies of their impact on human biology and clinical phenotype, the contributions of these variants to the pathogenesis, progression, and/or treatment outcome of many diseases that involve immunoglobulin have become evident. They affect susceptibility to bacterial and viral pathogens, constitute as risk factors for IgG or IgE mediated inflammatory diseases, and impact the development of many autoimmune conditions. In this chapter, we will provide an overview of these genetic variations in classical FcγRs, FcRLs, and other Fc receptors, as well as challenges in achieving an accurate and comprehensive understanding of the FcR polymorphisms and genomic architecture.

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FCRL3 gene polymorphisms contribute to the radiographic severity rather than susceptibility of rheumatoid arthritis

Cited by 14 publications

References 43 publications

A genetic study on C5-TRAF1 and progression of joint damage in rheumatoid arthritis

A genetic study on C5-TRAF1 and progression of joint damage in rheumatoid arthritis

Meta-analysis for genome-wide association studies using case-control design: application and practice

Human FcR Polymorphism and Disease

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