Rheumatoid Arthritis: Ballina J

Julià A, Ballina J, Cañete JD, Balsa A, Tornero-Molina J, Naranjo A, Alperi-López M, Erra A, Pascual-Salcedo D, Barceló P, Camps J, Marsal S. · Institut de Recerca, Hospital Universitari Vall d'Hebron, Barcelona, Spain. · Arthritis Rheum. · Pubmed #18668548 links to  free full text

Abstract: OBJECTIVE: To identify new genes associated with susceptibility to rheumatoid arthritis (RA), using a 2-stage genome-wide association study. METHODS: Following a liability-based study design, we analyzed 317,503 single-nucleotide polymorphisms (SNPs) in 400 patients with RA and 400 control subjects. We selected a group of candidate SNPs for replication in an independent group of 410 patients with RA and 394 control subjects. Using data from the 3 previous genome-wide association studies in RA, we also looked for genomic regions showing evidence of common association signals. Finally, we analyzed the presence of genome-wide epistasis using the binary test implemented in the PLINK program. RESULTS: We identified several genomic regions showing evidence of genome-wide association (P < 1 x 10(-5)). In the replication analysis, we identified KLF12 SNP rs1324913 as the most strongly associated SNP (P = 0.01). In our study, we observed that this SNP showed higher significance than PTPN22 SNP rs2476601, in both the genome-wide association studies and the replication analyses. Furthermore, the integration of our data with those from previous genome-wide association studies showed that KLF12 and PTPRT are the unique loci that are commonly associated in 3 different studies (P = 0.004 and P = 0.002 for KLF12 in the Wellcome Trust Case Control Consortium study and the Brigham and Women's Rheumatoid Arthritis Sequential Study genome-wide association study, respectively). The genome-wide epistasis analysis identified several SNP pairs close to significance after multiple test correction. CONCLUSION: The present genome-wide association study identified KLF12 as a new susceptibility gene for RA. The joint analysis of our results and those from previous genome-wide association studies showed genomic regions with a higher probability of being genuine susceptibility loci for RA.

Ariza-Ariza R, Hernández-Cruz B, Carmona L, Dolores Ruiz-Montesinos M, Ballina J, Navarro-Sarabia F, Anonymous00382. · Rheumatology Service, Hospital Universitario Virgen Macarena, Seville, Spain. · Arthritis Rheum. · Pubmed #17013822 links to  free full text

Abstract: OBJECTIVE: To compare the utility values and quality-adjusted life years (QALYs) obtained by the Time Trade-Off instrument (TTO) and the EuroQol-5D (EQ-5D) in patients with rheumatoid arthritis (RA); to analyze the association between utility values and Disease Activity Score 28 (DAS28) and Health Assessment Questionnaire (HAQ). METHODS: We conducted a longitudinal, prospective, 1-year study of RA patients selected randomly from 10 rheumatology clinics. TTO and EQ-5D were administered at 4 scheduled visits. RESULTS: The study sample comprised 300 RA patients (82% women, mean age 59 years, mean disease duration 10.3 years). A total of 260 patients completed both the TTO and the EQ-5D at baseline, and the mean +/- SD TTO scores were significantly higher than the EQ-5D scores (0.81 +/- 0.22 versus 0.53 +/- 0.35, P < 0.0001). The intraclass correlation coefficient (ICC) for the utility methods was 0.19. Data about changes in both TTO and EQ-5D scores during the study year were available in 163 patients. These changes tended to be larger in the TTO scores than the EQ-5D scores (mean +/- SD 0.05 +/- 0.25 versus -0.005 +/- 0.35, P = 0.054). The ICC for the mean changes in the utility scores was 0.24. Patients obtained a mean +/- SD of 0.04 +/- 0.20 QALYs based on TTO scores and 0.004 +/- 0.27 based on EQ-5D scores (P = 0.12). At baseline, the EQ-5D scores were highly correlated with the HAQ (r = -0.74) and moderately correlated with the DAS28 (r = -0.47), whereas the TTO correlated poorly with both the HAQ and DAS28. Correlation between the mean change in the EQ-5D and in the HAQ was moderate (r = -0.55). CONCLUSION: TTO and EQ-5D do not yield the same utility values. The results suggest that the EQ-5D is more representative of RA status than the TTO, a valuable conclusion when addressing economic evaluations in RA.

Carmona L, Villaverde V, Hernández-García C, Ballina J, Gabriel R, Laffon A, Anonymous00180. · Research Unit, Hospital de la Princesa, Diego de Léon, 62, 28006 Madrid, Spain. · Rheumatology (Oxford). · Pubmed #11792885 links to  free full text

Abstract: OBJECTIVE: To estimate the prevalence of rheumatoid arthritis (RA) in the adult Spanish population and to assess its distribution by basic sociodemographic characteristics. METHODS: Two thousand nine hundred and ninety-eight adults were selected randomly from the censuses of 20 municipalities. Trained rheumatologists administered a structured interview that included a screening questionnaire for RA. Subjects with a positive screening result were examined according to a standardized protocol. Cases were defined by the 1987 American College of Rheumatology (ACR) criteria adapted to epidemiological surveys. RESULTS: One hundred and eighty-six persons (8.5%) had a positive screening result for RA and 11 of these fulfilled the ACR criteria for RA. The estimated prevalence was 0.5% (95% confidence interval 0.25-0.85). The ratios of women to men and of urban to rural were both 4:1. Function and health perception of the cases were significantly impaired, even after controlling for age and sex. CONCLUSION: The prevalence of RA in Spain is comparable to that in other Mediterranean countries. RA may be less frequent in rural settings, a finding that merits further research. A significant proportion of RA cases in the community remain undiagnosed despite impaired functional status.

Carmona L, Ballina J, Gabriel R, Laffon A, Anonymous00280. · Research Unit, Hospital Universitario de La Princesa, Madrid, Spain. · Ann Rheum Dis. · Pubmed #11602475 links to  free full text

Abstract: OBJECTIVE: The objective of the EPISER study was to estimate the prevalence of rheumatoid arthritis (RA), low back pain, hand and knee osteoarthritis (OA), and fibromyalgia in the adult Spanish population, and to assess the impact of these diseases on function and quality of life, and use of health and social resources. METHODS: 2998 subjects aged 20 years or above were randomly selected by stratified multistage cluster sampling from the censuses of 20 municipalities. Trained rheumatologists carried out structured visits at which subjects were asked about rheumatic symptoms and sociodemographic characteristics, completed validated instruments for measuring function (HAQ) and quality of life (SF-12), and underwent a standardised physical examination. Cases were defined by previously validated criteria. RESULTS: The estimated prevalences with 95% confidence intervals were as follows: RA lifetime cumulative: 0.5% (0.3 to 0.9); low back pain: 14.8% (12.2 to 17.4); symptomatic knee OA: 10.2% (8.5 to 11.9); hand OA: 6.2% (5.9 to 6.5); fibromyalgia: 2.4% (1.5 to 3.2). Most conditions significantly impaired function and quality of life. CONCLUSIONS: The EPISER study has internal and external validity for application of the results to the adult Spanish population. The diseases studied affect a significant proportion of the population, with various degrees of impact on disability and quality of life resulting in a significant number of physician visits, work disability, and medication use.