Clinical features and genetic biomarkers associated with different phenotypes of systemic lupus erythematosus in Paraguayan patients.

Systemic lupus erythematosus (SLE) is a complex autoimmune disease characterized by a heterogeneous clinical picture that makes the diagnosis and follow-up of these patients difficult. This study aimed to identify correlations between clinical, immunological, and genetic biomarkers and clinical manifestations in SLE. A retrospective study of data from medical records and immunological and genetic studies of SLE patients in Paraguay was carried out. A descriptive analysis was performed based on the type of variable. Human leukocyte antigen (HLA) allele frequencies (DPA1, DPB1, DQA1, DQB1, and DRB1) were calculated, and univariate logistic regression analyses were performed between each of the explanatory variables and the presence or absence of each phenotype. Odds ratios, 95% confidence intervals, and p values were recorded. Associations with p<0.05 were considered statistically significant. 104 SLE patients were included: 86% were female, with a mean age of 32.80±10.36 years. An association was identified between anti-double stranded DNA (anti-dsDNA) and the presence of the renal phenotype and between anti-dsDNA and the absence of the joint and hematological phenotypes. Immunoglobulin M isotype rheumatoid factor was associated with the absence of a renal phenotype. HLA-DQB1*02:02 and HLA-DRB1*07:01 were associated with the cutaneous phenotype. An association was identified between age at disease onset over 30 years and the presence of the joint phenotype. No other associations were identified. Potential clinical, immunological, and genetic biomarkers of phenotypes have been identified in SLE Paraguayan patients.

A genome-wide association study identifies a new locus associated with the response to anti-TNF therapy in rheumatoid arthritis.

Anti-Tumor Necrosis Factor (anti-TNF) drugs are biologic agents commonly used to treat rheumatoid arthritis (RA). However, anti-TNFs are not effective in approximately one out of four treated patients. We conducted a Genome-Wide Association Study (GWAS) to identify the genetic variation associated with the response to anti-TNF therapy in RA. In the discovery stage, 372 RA patients treated with an anti-TNF agent (infliximab, adalimumab or etanercept) were analyzed and treatment response was defined at 12 weeks of therapy. We found a genome-wide significant association in the MED15 gene with the response to etanercept (P<1.5e-8). Using an independent cohort of 245 RA patients, we performed a replication study of the most significant GWAS associations. We replicated the association at the MED15 locus and found suggestive evidence of association in the previously associated MAFB locus. The results of this study suggest novel mechanisms associated with the response to anti-TNF therapies.

Déficit de vitamina D en pacientes post-menopáusicas y su relación con el metabolismo fosfocálcico y la osteoporosis / Vitamin D deficiency in post-menopausal patients and its relation with the mineral metabolism and the osteoporosis

La influencia de la hipovitaminosis D en la mujer post-menopáusica constituye un tema de gran importancia por las implicancias en el metabolismo fosfo-cálcico y su posible asociación en el desarrollo de otros tipos de patologías. Es por eso que el presente estudio tiene por objetivo conocer la prevalencia de la hipovitaminosis D en una población de mujeres post-menopáusicas y su asociación con los cambios en el metabolismo fosfocálcico y con el desarrollo de la osteoporosis. Se incluyó 67 mujeres post-menopáusicas procedentes de una consulta ambulatoria de reumatología. Se consideraron las siguientes variables clínicas (i.e. edad, peso), laboratorio (i.e. concentraciones de calcio, fosforo y PTH) y la presencia o ausencia de osteopenia u osteoporosis. El valor de la media de la edad de las pacientes fue de 66 ± 11,29 años y las concentraciones de vitamina D inferior a 30 ng/ml se observó en 50 (74,6%) pacientes. La osteopenia u osteoporosis se observó en una parte importante de nuestros pacientes. No se observó una correlación significativa entre las concentraciones de vitamina D y las concentraciones de calcio y fósforo. Se observó una correlación negativa en relación a las concentraciones de PTH (P= 0,049). Las pacientes con osteoporosis u osteopenia presentan con frecuencia hipovitaminosis D. Es por eso que existe la necesidad de realizar una detección y tratamiento temprano a fin de evitar las graves complicaciones que podrían acompañar a la pérdida de densidad ósea en este grupo de pacientes.