Punceviciene Egle, Gaizevska Justina, Sabaliauskaite Rasa, Venceviciene Lina, Puriene Alina, Vitkus Dalius, Jarmalaite Sonata, Butrimiene Irena
Clinic of Rheumatology, Traumatology Orthopaedics and Reconstructive Surgery, Institute of Clinical Medicine of the Faculty of Medicine, Vilnius University, M. K. Čiurlionio str. 21, 03101Vilnius, Lithuania.
State Research Institute Centre for Innovative Medicine, Santariškių str. 5, 08406 Vilnius, Lithuania.
Medicina (Kaunas). 2021 Apr 3;57(4):346. doi: 10.3390/medicina57040346.
Rheumatoid arthritis (RA) is a chronic, inflammatory, autoimmune, multi-factorial disease, in which environmental and genetic factors play a major role. RA is possibly linked to vitamin D deficiency and vitamin D receptor () gene polymorphisms, and research demonstrates that variant susceptibility is associated with increased disease risk among Caucasians. The aim of this study was to evaluate vitamin D deficiency prevalence and its correlation to RA clinical parameters, and to determine the possible association of gene polymorphisms and RA susceptibility in the Lithuanian population. : Overall, 206 RA patients and 180 age- and sex-matched healthy controls were enrolled at Vilnius University Hospital Santaros Klinikos after informed consent was obtained. The disease activity score 28 C-reactive protein (DAS28 CRP), rheumatoid arthritis impact of disease (RAID) score, and health assessment questionnaire (HAQ) were recorded in RA patients, and 25(OH)D serum levels were evaluated by chemiluminescent microparticle immunoassay for all subjects. Four gene polymorphisms, , , , and , were assessed using real-time PCR instruments and genotyping assays in both groups. : The study registered a high prevalence of 25(OH)D deficiency (<50 nmol/L) in RA patients (61.55% ( = 127)). The mean serum concentration in RA patients (44.96 ± 21.92 (nmol/L)) was significantly lower than in the healthy controls (54.90 ± 22.82 (nmol/L)), < 0.0001. A significant inverse correlation between vitamin D level, DAS28 CRP, and HAQ scores was confirmed in RA patients, with p < 0.05. Still, there was no significant association between the overall risk of RA disease for any allele or genotype of the four loci tested. : The study confirmed that vitamin D deficiency is prevalent among RA patients and the 25(OH)D level is significantly lower compared with healthy controls. Lower vitamin D concentration was related with increased disease activity and disability scores. However, genetic analysis of four polymorphisms did not confer the susceptibility to RA in Lithuanian population.
类风湿关节炎（RA）是一种慢性、炎症性、自身免疫性、多因素疾病，环境和遗传因素在其中起主要作用。RA可能与维生素D缺乏和维生素D受体（）基因多态性有关，研究表明，在白种人中，变异易感性与疾病风险增加有关。本研究的目的是评估立陶宛人群中维生素D缺乏的患病率及其与RA临床参数的相关性，并确定基因多态性与RA易感性之间的可能关联。方法：总体而言，在获得知情同意后，于维尔纽斯大学医院桑塔罗斯临床中心招募了206例RA患者和180例年龄及性别匹配的健康对照。记录RA患者的疾病活动评分28 C反应蛋白（DAS28 CRP）、类风湿关节炎疾病影响（RAID）评分和健康评估问卷（HAQ），并通过化学发光微粒免疫分析法评估所有受试者的血清25（OH）D水平。使用实时PCR仪器和基因分型检测法对两组中的四个基因多态性，即、、、和进行评估。结果：该研究显示RA患者中25（OH）D缺乏（<50 nmol/L）的患病率很高（61.55%（ = 127））。RA患者的平均血清浓度（44.96±21.92（nmol/L））显著低于健康对照（54.90±22.82（nmol/L）），<0.0001。在RA患者中，维生素D水平、DAS28 CRP和HAQ评分之间存在显著负相关，p<0.05。然而，在所检测的四个基因座的任何等位基因或基因型与RA疾病的总体风险之间均无显著关联。结论：该研究证实RA患者中普遍存在维生素D缺乏，且与健康对照相比，25（OH）D水平显著较低。较低的维生素D浓度与疾病活动度和残疾评分增加有关。然而，对四个基因多态性的基因分析未显示立陶宛人群对RA具有易感性。
