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Epistatic interaction between FCRL3 and NFkappaB1 genes in Spanish patients with rheumatoid arthritis.

ABSTRACT: BACKGROUND: A Japanese study has described a strong association between rheumatoid arthritis and several polymorphisms located in the Fc receptor-like 3 (FCRL3) gene, a member of a family of genes related to Fc receptors located on chromosome 1q21-23. OBJECTIVES: To evaluate the association between rheumatoid arthritis and FCLR3 polymorphisms in a large cohort of Caucasian patients with rheumatoid arthritis and healthy controls of Spanish origin. Owing to the described functional link between the FCRL3 polymorphisms and the transcription factor nuclear factor kappaB (NFkappaB), a functional polymorphism located in the NFkappaB1 gene was included. METHODS: 734 patients with rheumatoid arthritis from Madrid and Granada, Spain, were included in the study, along with 736 healthy controls. Polymorphisms in the FCRL3 gene were studied by TaqMan technology. The -94ins/delATTG NFkappaB1 promoter polymorphism was analysed by fragment analysis after polymerase chain reaction with labelled primers. Genotypes were compared using 3x2 contingency tables and chi2 values. RESULTS: No overall differences were found in any of the FCRL3 polymorphisms and in the NFkappaB1 promoter polymorphism when patients were compared with controls. However, when stratified according to NFkappaB1 genotypes, a susceptibility effect of FCRL3 polymorphisms was observed in patients who were heterozygotes for NFkappaB1 (pc = 0.003). CONCLUSIONS: The FCRL3 polymorphisms associated with rheumatoid arthritis in a Japanese population are not associated per se with rheumatoid arthritis in a Spanish population. A genetic interaction was found between NFkappaB1 and FCRL3 in Spanish patients with rheumatoid arthritis. These findings may provide a general rationale for divergent genetic association results in different populations.

SUBMITTER: Martinez A

PROVIDER: S-EPMC1798300 | biostudies-literature | 2006 Sep

REPOSITORIES: biostudies-literature

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Epistatic interaction between FCRL3 and NFkappaB1 genes in Spanish patients with rheumatoid arthritis.

Martínez A A Sánchez E E Valdivia A A Orozco G G López-Nevot M A MA Pascual-Salcedo D D Balsa A A Fernández-Gutiérrez B B de la Concha E G EG García-Sánchez A A Koeleman B P C BP Urcelay E E Martín J J

Annals of the rheumatic diseases 20060213 9

<h4>Background</h4>A Japanese study has described a strong association between rheumatoid arthritis and several polymorphisms located in the Fc receptor-like 3 (FCRL3) gene, a member of a family of genes related to Fc receptors located on chromosome 1q21-23.<h4>Objectives</h4>To evaluate the association between rheumatoid arthritis and FCLR3 polymorphisms in a large cohort of Caucasian patients with rheumatoid arthritis and healthy controls of Spanish origin. Owing to the described functional li ...[more]

PMID: 16476711

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Project description:BackgroundRheumatoid arthritis (RA) knowledge has been constructed with studies performed in Caucasians patients; Latin American patients present unique characteristics. Empowerment is a social multidimensional construct that has been associated to better health-related quality of life in RA. There is no validated instrument for use with Spanish-speaking patients. The objective of the study was to adapt the Spanish version of the Health Empowerment Scale (S-HES), which was selected for its psychometric properties and suitability for low-literacy populations, for RA Hispanic patients (RAEH), and to perform its psychometric validation.MethodsRAEH adaptation, pilot testing, and psychometric validation were performed. Three convenience samples of RA outpatients from a national tertiary care level center were used. For RAEH adaptation, the word "health" was substituted with "RA" in the original S-HES, integrated by 8 items. Pilot testing (in 50 patients) assessed feasibility. Psychometric validation included content validity (nine experts rated item convenience, clarity, and cultural semantic accuracy), internal consistency (in 200 patients, Cronbach's alpha) and test-retest (in a subsample of 50 patients, ICC and 95% CI), construct validity (factor analysis), and face validity (in 20 patients, % of agreement). Patients gave written informed consent.ResultsPatients were primarily middle-aged females and had typical long-standing disease, although early disease was represented. In the psychometric validation sample, the majority of the outpatients had autoantibodies; meanwhile, half of them had no evidence of disease activity, with acute reactants phase determinations within normal range. Patients with comorbidities and joint replacement were also included. Experts agreed upon the attributes of content validity: 83-100% considered the item was essential, 100% agreed on the item's clarity and 80-100% on the cultural semantic accuracy. In the pilot sample, ? 80% of the patients agreed with the item's clarity and format. In the psychometric validation sample, mean RAEH was 34 (maximum possible score: 40?=?highest score). RAEH had a good internal consistency, Cronbach's ??=?0.86, and moderately good reliability (ICC [95% CI] test-retest: 0.79 [0.62-0.88]). Factor analysis for construct validity showed a single factor explaining 52% of the variance. Patients agreed with each item content validity (85-100%) and clarity (75-100%).ConclusionsRAEH was valid and reliable to evaluate empowerment in Spanish-speaking RA patients.

Dataset Information

Epistatic interaction between FCRL3 and NFkappaB1 genes in Spanish patients with rheumatoid arthritis.

Publications

Epistatic interaction between FCRL3 and NFkappaB1 genes in Spanish patients with rheumatoid arthritis.

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