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维生素 D 状态与 CYP27B1-1260 启动子多态性在突尼斯系统性红斑狼疮患者中的相关性。

Vitamin D status and CYP27B1-1260 promoter polymorphism in Tunisian patients with systemic lupus erythematosus.

机构信息

Autoimmunity, Cancer and immunogenetics research laboratory, University hospital Habib Bourguiba of Sfax, Sfax, Tunisia.

Biochemistry Department, Habib Bourguiba University Hospital, Sfax, Tunisia.

出版信息

Mol Genet Genomic Med. 2021 Mar;9(3):e1618. doi: 10.1002/mgg3.1618. Epub 2021 Feb 17.

Abstract

AIM

An association between serum vitamin D (Vit D) levels and systemic lupus erythematosus (SLE) has been reported by several studies that suggested the involvement of genetically determined characteristics of enzymes of vitamin D metabolism. Our study aimed to evaluate the relationship between 25 hydroxyvitamin D (25[OH]D) level, the most representative metabolite of VitD status, and polymorphism of the cytochrome P450, CYP27B1 gene, which influence vitamin D metabolism, and serum levels, in SLE Tunisian patients.

MATERIAL AND METHODS

A cross-sectional study has been conducted in SLE patients (supplemented and not supplemented patients), matched to healthy controls by age and gender. The 25[OH]D serum level was measured by chemiluminescence assay and CYP27B1-1260 genetic polymorphism was carried out using PCR-RFLP methods. Statistical analysis was made using Shesis and SPSS.20 Software.

RESULTS

Controls and Vit D not supplemented patients' groups presented the highest percentage of hypovitaminosis D. A significant difference in the mean level of circulating 25[OH]D between Vit D supplemented SLE patients and controls was observed (23.91 ng/ml and 7.18 ng/ml, respectively p = 3.4 10 ). Our results showed a correlation of high 25[OH]D level with complement component 3 levels and prednisolone drug. Moreover, the analysis of CYP27B1-1260 polymorphism in SLE patients and controls revealed a nonsignificant allelic or genotypic association.

CONCLUSION

Despite the sunny climate, the high prevalence of Vit D deficiency is common in Tunisia. This hypovitaminosis D feature may affect the Vit D levels in our SLE patients but a direct association with the disease or with the genetically determined features remains unclear. More studies are needed to establish thresholds and susceptibility genes according to the characteristics of each population.

摘要

目的

几项研究报告了血清维生素 D(Vit D)水平与系统性红斑狼疮(SLE)之间存在关联,这些研究表明维生素 D 代谢酶的遗传决定特征可能参与其中。我们的研究旨在评估 25 羟基维生素 D(25[OH]D)水平(VitD 状态最具代表性的代谢产物)与影响维生素 D 代谢和血清水平的细胞色素 P450、CYP27B1 基因多态性之间的关系,该基因多态性在突尼斯 SLE 患者中。

材料和方法

进行了一项横断面研究,纳入了 SLE 患者(补充和未补充 VitD 的患者),并按年龄和性别与健康对照组相匹配。血清 25[OH]D 水平通过化学发光法测定,CYP27B1-1260 基因多态性采用 PCR-RFLP 方法进行。使用 Shesis 和 SPSS.20 软件进行统计分析。

结果

对照组和未补充 Vit D 的患者组表现出最高的维生素 D 缺乏症发生率。补充 VitD 的 SLE 患者和对照组之间循环 25[OH]D 平均水平存在显著差异(分别为 23.91ng/ml 和 7.18ng/ml,p=3.410)。我们的结果显示,高 25[OH]D 水平与补体成分 3 水平和泼尼松龙药物相关。此外,在 SLE 患者和对照组中分析 CYP27B1-1260 多态性时,未发现等位基因或基因型存在显著关联。

结论

尽管突尼斯阳光充足,但 Vit D 缺乏症的高患病率很常见。这种维生素 D 缺乏症可能会影响我们 SLE 患者的 Vit D 水平,但与疾病或遗传决定特征之间的直接关联尚不清楚。需要进一步研究,根据每个人群的特点确定阈值和易感基因。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a8a7/8104169/da162b63ab29/MGG3-9-e1618-g001.jpg

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