1,25-二羟基维生素 D3 途径在慢性荨麻疹中的作用：一项医院病例对照研究的结果

IF 1 Q4 GENETICS & HEREDITY

Gene Reports Pub Date : 2024-11-22 DOI:10.1016/j.genrep.2024.102093

Fizalah Kawoosa , Tabasum Shafi , Roohi Rasool, Shazia Nazir, Nusrat Kounsar

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引用次数: 0

摘要

背景以往的研究表明，维生素 D 途径失调与皮肤病有关。在本研究中，我们试图探讨维生素 D 受体（VDR）和维生素 D 结合蛋白（VDBP）的遗传变异，同时估算慢性荨麻疹（CU）患者的血清维生素 D 和 VDBP 水平。方法从所有参与者（n = 200）中采集血样，使用酶联免疫吸附试验（ELISA）评估血清维生素 D、VDBP 和总 IgE 水平。此外，还从血样中提取 DNA，利用聚合酶链式反应（PCR）和限制性片段长度多态性（RFLP）分析 VDR（rs1544410、rs2228570）和 VDBP（rs7041）多态性。结果与对照组相比，CU 患者的总 IgE（208.29 ± 151.293 vs. 125.91 ± 73.13 IU/ml）和 VDBP（570.59 ± 158.74 vs. 314.408 ± 140.31 μg/ml）水平升高（p 值为 0.0001）。此外，这类患者的维生素 D 水平也较低（14.57 ± 8.71 vs. 20.022 ± 8.9 ng/ml，p 值为 0.0001）。此外，我们还观察到，VDBP rs7041 和 VDR rs2228570 的'G'和'C'等位基因可能是导致慢性荨麻疹恶化的潜在风险因素。虽然在这些遗传变异与血清维生素 D 或 VDBP 水平之间没有观察到明显的关联，但已确定的遗传变异可能会在增加克什米尔人对慢性荨麻疹的易感性方面发挥作用。要确认任何因果关系，还需要进一步的研究，包括孟德尔随机研究。

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Role of 1,25-dihydroxy vitamin D3 pathway in chronic urticaria: Findings from a hospital-based case-control study

Background

Previous research has linked dysregulation of the vitamin D pathway to skin diseases. In this study, we sought to explore the genetic variations in the vitamin D receptor (VDR) and vitamin D-binding protein (VDBP), alongside the estimation of serum vitamin D and VDBP levels in Chronic Urticaria (CU) patients.

Methods

Blood samples were obtained from all participants (n = 200) to assess serum vitamin D, VDBP, and total IgE levels using enzyme-linked immunosorbent assay (ELISA). Additionally, DNA was extracted from the blood samples for analysis of VDR (rs1544410, rs2228570) and VDBP (rs7041) polymorphisms using polymerase chain reaction (PCR) followed by restriction fragment length polymorphism (RFLP).

Results

CU patients exhibited elevated levels of total IgE (208.29 ± 151.293 vs. 125.91 ± 73.13 IU/ml) and VDBP (570.59 ± 158.74 vs. 314.408 ± 140.31 μg/ml) (p-value < 0.0001), as compared to controls. Further, such patients also showed lower vitamin D levels (14.57 ± 8.71 vs. 20.022 ± 8.9 ng/ml, p-value < 0.0001). Additionally, we observed that the ‘G’ and ‘C’ alleles of VDBP rs7041 and VDR rs2228570, respectively, might be a potential risk factor for the progression of CU.

Conclusion

This study provides valuable insights into the potential involvement of VDR and VDBP genetic variants in the pathogenesis of Chronic Urticaria (CU). While no significant associations were observed between these genetic variants and serum levels of vitamin D or VDBP, the identified genetic variations may play a role in increasing CU susceptibility within the Kashmiri population. Further research, including Mendelian randomization studies, is required to confirm any causal relationships.

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来源期刊

Gene Reports Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

3.30

自引率

7.70%

发文量

246

审稿时长

49 days

期刊介绍： Gene Reports publishes papers that focus on the regulation, expression, function and evolution of genes in all biological contexts, including all prokaryotic and eukaryotic organisms, as well as viruses. Gene Reports strives to be a very diverse journal and topics in all fields will be considered for publication. Although not limited to the following, some general topics include: DNA Organization, Replication & Evolution -Focus on genomic DNA (chromosomal organization, comparative genomics, DNA replication, DNA repair, mobile DNA, mitochondrial DNA, chloroplast DNA). Expression & Function - Focus on functional RNAs (microRNAs, tRNAs, rRNAs, mRNA splicing, alternative polyadenylation) Regulation - Focus on processes that mediate gene-read out (epigenetics, chromatin, histone code, transcription, translation, protein degradation). Cell Signaling - Focus on mechanisms that control information flow into the nucleus to control gene expression (kinase and phosphatase pathways controlled by extra-cellular ligands, Wnt, Notch, TGFbeta/BMPs, FGFs, IGFs etc.) Profiling of gene expression and genetic variation - Focus on high throughput approaches (e.g., DeepSeq, ChIP-Seq, Affymetrix microarrays, proteomics) that define gene regulatory circuitry, molecular pathways and protein/protein networks. Genetics - Focus on development in model organisms (e.g., mouse, frog, fruit fly, worm), human genetic variation, population genetics, as well as agricultural and veterinary genetics. Molecular Pathology & Regenerative Medicine - Focus on the deregulation of molecular processes in human diseases and mechanisms supporting regeneration of tissues through pluripotent or multipotent stem cells.