Background: Postmenopausal osteoporosis is a multifactorial disease. Genetic factors play an essential role in contributing to bone mineral density (BMD) variability, which ranges from 60 to 85%. Alendronate is used as the first line of pharmacological treatment for osteoporosis; however, some patients do not respond adequately to therapy with alendronate. Aim: The aim of this work was to investigate the influence of combinations of potential risk alleles (genetic profiles) associated with response to anti-osteoporotic treatment in postmenopausal women with primary osteoporosis. Methods: A total of 82 postmenopausal women with primary osteoporosis receiving alendronate (70 mg administered orally per week) for one year were observed. The bone mineral density (BMD; g/cm2) of the femoral neck and lumbar spine was measured. According to BMD change, patients were divided into two groups: responders and non-responders to alendronate therapy. Polymorphic variants in CYP19, ESR1, IL-6, PTHR1, TGFβ, OPG and RANKL genes were determined and profiles were generated from the combination of risk alleles. Results: A total of 56 subjects were responders to alendronate and 26 subjects were non-responders. Carriers of the G-C-G-C profile (constructed from rs700518, rs1800795, rs2073618 and rs3102735) were predisposed to response to alendronate treatment (p = 0.001). Conclusions: Our findings highlight the importance of the identified profiles for the pharmacogenetics of alendronate therapy in osteoporosis.
Background Sarcopenia refers to age-related loss of muscle mass and function. However, autoimmune sarcopenia refers to excessive weight loss usually with disproportionate muscle wasting due to cytokine excess. Previous studies have found a frequency of autoimmune sarcopenia of about 15 to 20%. The progressive loss of muscle mass lead to decrease in physical activity and a rise in cardiovascular and metabolic disorders. There is currently no widely accepted definition of sarcopenia in autoimmune diseases. Objectives The purpose of this study was to determine the frequency of muscle wasting in patients with rheumatoid arthritis (RA) and systemic lupus erythematosus (SLE). Methods In a cross-sectional study, we screened the patients from outpatient clinic in the rheumatology service and were excluded patients with chronic disorders of heart, kidney and liver, also the patients that were on HMG-CoA reductase inhibitors treatment; we performed medical history and physical examination, specialist in clinical nutrition made the anthropometric measures, blood samples were taken for clinical laboratory analysis. Activity scales for each disease were made, DAS-28 in RA and MEX-SLEDAI in SLE patients. We determined the whole body lean mass using Dual-emission X-ray Absorptiometry (DEXA). Statistical analysis was performed using arithmetic mean, standard deviation, Student T test; chi-square and Fisher exact test when appropriate and Spearman rank correlation test all using SPSS program (v 12.0). Results Forty-six patients with autoimmune disease (AID), twenty six patients with RA and 20 with SLE according to the 1987 ACR criteria and 25 healthy subjects were analyzed; mean age of AID was 40±13.4 vs. 39±18 years in control group. Ninety-four percent were women. 90% of the AID group was taking hydroxychloroquine and 80% was on mild doses of corticosteroids. The anthropometric measures revealed obesity in 28% of the patients vs 16% in control group. The frequency of sarcopenia in AID group was 26% (12 pts) vs 20% (5 pts) in control group, p=0.000; There was no difference in the cases of sarcopenic-obesity. The risk of sarcopenia in sedentary patients was OR 1.93 (IC 95% 0.385 to 9.7). There was no correlation between activity scales of AID and sarcopenia rho =0.121 for SLE and rho=0.170 in RA patients. The use of hydroxychloroquine is not protection for muscle wasting OR 1.4 (IC 95% 0.147 to 14.59). Finally the risk of sarcopenia in patients with AID was OR 1.4 (IC 95% 0.434 to 4.596). Conclusions Our work demonstrated that patients with AID have a slightly risk of sarcopenia when are compared to control group. This finding may affect the quality of life and promote the increasing of morbidity in such patients. References Santos MJ, Vinagre F, Canas Da silva J, Gil V, Fonseca JE. Body composition phenotypes in systemic lupus erythematosus and rheumatoid arthritis: a comparative of caucasian female patients. Clin Exp Rheum; 2011 29: 470-476 Disclosure of Interest None Declared
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