BsmI, ApaI and FokI variants of vitamin D receptor gene polymorphism as predictors of response to treatment in immune thrombocytopenia patients.

IF 3.5 2区生物学 Q3 CELL BIOLOGY

Molecular and Cellular Biochemistry Pub Date : 2024-09-23 DOI:10.1007/s11010-024-05100-2

Rania A Radwan, Walaa A Elsalakawy, Doaa M Abdelaziz, Doaa M Abdelrazek, Sara M Radwan

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Abstract

Vitamin D receptor (VDR) polymorphisms are linked with the incidence and severity of several autoimmune diseases. The current work aimed at evaluating if VDR rs1544410 (BsmI), rs7975232 (ApaI) and rs2228570 (FokI) gene polymorphisms could be predictors of response to steroid treatment in patients with immune thrombocytopenia (ITP). The study involved 75 steroid treatment responders and 75 resistant ITP patients. All participants were subjected to VDR BsmI, ApaI and FokI gene polymorphisms analysis through genotyping by RT-PCR. Carrying the FokI F allele was significantly associated with low vitamin D level and increased risk of developing steroid resistance. Interestingly, the tri-allelic haplotypes BAF and BaF were significantly only present in steroid resistant ITP patients. Thus, the present study suggests that VDR FokI F allele may contribute to ITP pathogenesis and resistance to steroid treatment. Knowing the genetic background of patients helps to individualize treatment to obtain a better outcome.

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维生素 D 受体基因多态性的 BsmI、ApaI 和 FokI 变体可预测免疫性血小板减少症患者对治疗的反应。

维生素 D 受体（VDR）多态性与多种自身免疫性疾病的发病率和严重程度有关。目前的研究旨在评估 VDR rs1544410 (BsmI)、rs7975232 (ApaI) 和 rs2228570 (FokI) 基因多态性是否能预测免疫性血小板减少症（ITP）患者对类固醇治疗的反应。这项研究涉及 75 名类固醇治疗应答者和 75 名抗药性 ITP 患者。所有参与者都通过 RT-PCR 进行了 VDR BsmI、ApaI 和 FokI 基因多态性分析。携带 FokI F 等位基因与维生素 D 水平低和类固醇耐药性发生风险增加有显著相关性。有趣的是，三等位基因单倍型 BAF 和 BaF 明显只出现在类固醇耐药的 ITP 患者中。因此，本研究表明，VDR FokI F 等位基因可能是导致 ITP 发病和类固醇治疗耐药的原因之一。了解患者的遗传背景有助于个体化治疗，从而获得更好的疗效。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Molecular and Cellular Biochemistry 生物-细胞生物学

CiteScore

8.30

自引率

2.30%

发文量

293

审稿时长

1.7 months

期刊介绍： Molecular and Cellular Biochemistry: An International Journal for Chemical Biology in Health and Disease publishes original research papers and short communications in all areas of the biochemical sciences, emphasizing novel findings relevant to the biochemical basis of cellular function and disease processes, as well as the mechanics of action of hormones and chemical agents. Coverage includes membrane transport, receptor mechanism, immune response, secretory processes, and cytoskeletal function, as well as biochemical structure-function relationships in the cell. In addition to the reports of original research, the journal publishes state of the art reviews. Specific subjects covered by Molecular and Cellular Biochemistry include cellular metabolism, cellular pathophysiology, enzymology, ion transport, lipid biochemistry, membrane biochemistry, molecular biology, nuclear structure and function, and protein chemistry.