Vitamin D and VDR Gene Polymorphisms' Association with Rheumatoid Arthritis in Lithuanian Population.
Vitamin D and VDR Gene Polymorphisms' Association with Rheumatoid Arthritis in Lithuanian Population.
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立陶宛人群维生素D和VDR基因多态性与风湿性关节炎的相关性
DOI：
10.3390/medicina57040346
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发表时间：
2021-04-03
期刊：
影响因子：
--
通讯作者：
Butrimiene I
中科院分区：
文献类型：
--
作者：
Punceviciene E;Gaizevska J;Sabaliauskaite R;Venceviciene L;Puriene A;Vitkus D;Jarmalaite S;Butrimiene I
背景与目的：类风湿性关节炎（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（VDR）基因多态性有关，研究表明，在白种人中，FokI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缺乏症的患病率及其与RA临床参数的相关性，并确定VDR基因多态性与RA易感性之间的可能关联。材料和方法：总体而言，获得知情同意后，在维尔纽斯大学医院Santaros Klinikos登记了206名RA患者和180名年龄和性别匹配的健康对照。记录RA患者疾病活动性评分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），并采用化学发光微粒免疫分析法评估所有受试者血清25(OH)D水平。利用实时PCR仪器和基因分型分析对两组患者的4个VDR基因多态性BsmI、FokI、ApaI和TaqI进行评估。结果：研究记录了RA患者25(OH)D缺乏症（<50 nmol/L）的高患病率（61.55% (n = 127)）。RA患者血清平均浓度（44.96±21.92 (nmol/L)）显著低于健康对照组（54.90±22.82 (nmol/L)）， p < 0.0001。RA患者维生素D水平、DAS28 CRP与HAQ评分呈显著负相关，p < 0.05。尽管如此，四种VDR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没有显著关联。结论：研究证实，RA患者普遍缺乏维生素D， 25(OH)D水平明显低于健康对照组。较低的维生素D浓度与疾病活动性和残疾评分增加有关。然而，四个VDR多态性的遗传分析并没有赋予立陶宛人群对RA的易感性。
Background and Objectives: 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 (VDR) gene polymorphisms, and research demonstrates that FokI 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 VDR gene polymorphisms and RA susceptibility in the Lithuanian population. Materials and Methods: 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 VDR gene polymorphisms, BsmI, FokI, ApaI, and TaqI, were assessed using real-time PCR instruments and genotyping assays in both groups. Results: The study registered a high prevalence of 25(OH)D deficiency (<50 nmol/L) in RA patients (61.55% (n = 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)), p < 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 VDR loci tested. Conclusions: 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 VDR polymorphisms did not confer the susceptibility to RA in Lithuanian population.
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DOI：
10.1046/j.1365-2370.2001.00233.x
发表时间：
2001-02-01
期刊：
EUROPEAN JOURNAL OF IMMUNOGENETICS
影响因子：
--
作者：
Garcia-Lozano, JR;Gonzalez-Escribano, MF;Núñez-Roldán, A
通讯作者：
Núñez-Roldán, A
影响因子：
5.4
作者：
Mayne, Christopher G.;Spanier, Justin A.;Hayes, Colleen E.
通讯作者：
Hayes, Colleen E.
影响因子：
3.7
作者：
Lin J;Liu J;Davies ML;Chen W
通讯作者：
Chen W
影响因子：
2.6
作者：
Monticielo, O. A.;Brenol, J. C. T.;Xavier, R. M.
通讯作者：
Xavier, R. M.
DOI：
10.1196/annals.1398.044
发表时间：
2007-01-01
期刊：
AUTOIMMUNITY, PART A: BASIC PRINCIPLES AND NEW DIAGNOSTIC TOOLS
影响因子：
--
作者：
Orbach, Hedi;Zandman-Goddard, Gisele;Shoenfeld, Yehuda
通讯作者：
Shoenfeld, Yehuda