Amanda Senna Pereira dos Santos

Vitamin D and systemic lupus erythematosus: state of the art

Systemic lupus erythematosus (SLE) is a systemic inflammatory disease associated with genetic, environmental, hormonal, and immunological factors. One of these factors is vitamin D deficiency. Vitamin D plays many roles in the immune system. Several studies have suggested a potential role in the development of autoimmune diseases. SLE patients have low serum levels of vitamin D, which increase the possibility of an association between vitamin deficiency and disease onset and evolution. This review of the literature presents an analysis of the aspects related to the immunoregulatory effects of vitamin D and its importance for SLE, as well as the recommendations for vitamin D supplementation in these patients.

Spinocerebellar ataxia type 3/Machado-Joseph disease: segregation patterns and factors influencing instability of expanded CAG transmissions.

Controversies about Mendelian segregation and CAG expansion (CAGexp) instabilities during meiosis in spinocerebellar ataxia type 3/Machado–Joseph disease (SCA3/MJD) need clarification. Additional evidence about these issues was obtained from the cohort of all SCA3/MJD individuals living in South Brazil. A survey was carried out to update information registered since 2001. Deaths were checked with the Public Information System, and data was made anonymous. Anticipation and delta‐CAGexp from parent–offspring pairs, and delta‐CAGexp between siblings were obtained. One hundred and fifty‐nine families (94% of the entire registry) were retrieved, comprising 3725 living individuals as of 2015, 625 of these being symptomatic. Minimal prevalence was 6:100,000. Carriers of a CAGexp represented 65.6% of sibs in the genotyped offspring (p < 0.001). Median instability was larger among paternal than maternal transmissions, and instabilities correlated with anticipation (r = 0.38; p = 0.001). Age of the parent correlated to delta‐CAGexp among 115 direct parent–offspring CAGexp transmissions (ρ = 0.23, p = 0.014). In 98 additional kindreds, the delta‐CAGexp between 269 siblings correlated with their delta‐of‐age (ρ = 0.27, p < 0.0001). SCA3/MJD was associated with a segregation distortion favoring the expanded allele in our cohort. Instability of expansion during meiosis was weakly influenced by the age of the transmitting parent at the time of conception.

AB0072 Vitamin D Levels and Cytokine Profile in SLE Patients

Background Systemic lupus erythematosus (SLE) is a systemic autoimmune inflammatory disease which presents heterogeneous clinical manifestations. Patients with SLE develop autoimmune response mediated by T and B cells that are manifested by the production of cytokines and autoantibodies. Vitamin D has an immunomodulatory effect, acting in innate and adaptative immune systems, could change the Th1, Th2 and Th17 cytokine profiles. Objectives To evaluate the expression of Th1, Th2 and Th17 cytokine profiles in SLE patients and verify possible associations with serum vitamin D levels. Methods 172 patients with SLE followed at the outpatient clinic of Rheumatology at Hospital de Clinicas de Porto Alegre were included. The levels of 25-hydroxyvitamin D [(25(OH)D)] were measured by chemiluminescence. Serum levels <20 ng/ml were considered as vitamin D deficiency. Normal vitamin D levels were defined as ≥20ng/ml. Cytokines were measured in serum after thawing the samples on a single occasion, using Kit CBA Th1/Th2/Th17 (BD™ Biosciences, USA). Results 161 (94%) patients were women and 128 (74.4%) were classified as caucasian ethnicity. The mean age of was 40.5±13.8 years and the mean age at diagnosis was 31.5±13.4 years. At the time of study entry, patients had median (IQR) SLEDAI of 2 (1-4) and SLICC of 0 (0-1). Mean 25(OH)D levels were 25.4±11.04 ng/ml. Fifty-nine (34.3%) patients had vitamin D deficiency and 113 (65.7%) had normal levels. Serum levels of cytokines are shown in Table 1. No associations and statistically significant correlations between cytokine levels and dosages of vitamin D were found. Only levels of INF-α and SLEDAI showed a positive and significant correlation (rs=0.22, p=0.04). Linear regression analysis was performed to control for possible confounding factors, specially medications used. Table 1. Cytokine profiles and vitamin D levels Cytokine profiles 25(OH)D <20 ng/ml (n=59) 25(OH)D ≥20 ng/ml (n=113) p valuea Th1  IL-2b 2.98 (2.5–3.7) 3.00 (2.5–3.5) 0.98  IFN-γb 3.97 (3.5–4.6) 3.95 (3.6–4.5) 0.97  IFN-αb 4.19 (2.2–5.6) 4.19 (2.5–5.6) 0.96  TNF-αb 3.89 (3.1–4.3) 3.77 (3.1–4.7) 0.66 Th2  IL-10b 2.93 (2.6– 3.9) 2.85 (2.1–3.7) 0.15  IL-6b 6.33 (3.9–8,3) 5.30 (3.8–7.1) 0.22  IL-4b 3.37 (3.2–3.7) 3.50 (3.3–3.8) 0.18 Th17  vIL-17b 72.56 (53.4–112.7) 74.28 (52.5–112.2) 0.89  IL21b 22.76 (16.7–30.5) 24.77 (20.7–36.2) 0.13 Other  IL-12/IL-23p40b 23.96 (15.9–38.5) 26.04 (14.7–41.2) 0.83  IL-12p70b 1.81 (1.5–2.2) 1.87 (1.6–2.3) 0.51 a Mann-Whitney test; b Median (interquartile range); c Mean (standard deviation). Conclusions Vitamin D deficiency is prevalent in patients with SLE, however, no statistically significant correlations and associations between vitamin D levels and cytokine profile were found. We confirm the positive correlation between IFN-α and SLEDAI, according to the literature. In vitro effect of vitamin D on the cytokine profile was not reproduced in this study. Research with vitamin D and cytokine profile in controlled intervention trials with placebo are needed to investigate this hypothesis before any definitive conclusions can be made. Disclosure of Interest None declared DOI 10.1136/annrheumdis-2014-eular.4366