1 型糖尿病部分缓解期与维生素 D 受体 Fok1 rs2228570 多态性之间的关系

IF 1.3 4区 医学 Q4 ENDOCRINOLOGY & METABOLISM Journal of Pediatric Endocrinology & Metabolism Pub Date : 2024-09-03 DOI:10.1515/jpem-2024-0324
Randa Mahmoud Masoud, Nour Mohamed Abdel-Kader, Abdel-Rahman B Abdel-Ghaffar, Said Salama Moselhy, Yasmine Ibrahim Elhenawy
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引用次数: 0

摘要

研究目的本研究旨在评估 1 型糖尿病(T1D)部分缓解期(PR)的自然病程,并强调维生素 D 受体(VDR)(Fok1)基因多态性与 PR 期之间的假定关联:对90名新确诊的T1D患者进行了为期12个月的随访。方法:对 90 名新确诊的 T1D 患者进行了为期 12 个月的随访,并使用等位基因辨别(AD)分析法对 VDR(Fok1)rs2228570 基因多态性进行了基因分型:54名患者(60%)达到了PR,平均持续时间为(5.63 ± 2.9)个月。在缓解期患者中,CC "FF "基因型的频率和C "F "的等位基因频率明显较高(p结论:研究发现,年龄较小、代谢紊乱程度较轻以及表达 CC "FF "基因型会影响 PR 的发生。本研究的数据显示,"C "等位基因对保留残余β细胞质量有保护作用,并能预测新诊断 T1D 患者 PR 的发生和持续时间。这些发现支持了未来量身定制的精准医疗这一日益增长的概念。
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Association between partial remission phase in type 1 diabetes and vitamin D receptor Fok1 rs2228570 polymorphism.

Objectives: The aim of the current study was to assess the natural course of partial remission (PR) phase of type 1 diabetes (T1D) and to highlight the putative association between vitamin D receptor (VDR) (Fok1) gene polymorphism and PR phase.

Methods: Ninety participants with newly diagnosed T1D were followed up for a total of 12 months. The VDR (Fok1) rs2228570 gene polymorphism was genotyped using allelic discrimination (AD) assay.

Results: Fifty-four patients (60 %) reached PR with an average duration of 5.63 ± 2.9 months. Among remitters, the frequency of CC "FF" genotype and allelic frequency of C "F" were significantly higher (p<0.001). Furthermore, participants expressing "CC" genotype had earlier onset of PR and spent a significantly longer duration in remission (p<0.001). Younger age (p<0.001; OR 41.6; CI 12.12-142.99), absence of DKA (p<0.001; OR 16, CI 4.36-50.74), higher C-peptide levels (p<0.001; OR 19.55; CI 6.52-58.63), and presence of CC "FF" genotype of VDR (p<0.001; OR 6.74; CI 2.41-18.86) best predicted the overall occurrence of PR.

Conclusions: Younger age, less extent of metabolic derangements, and expression of a CC "FF" genotype were found to influence the occurrence of PR. Data from the current study showed that the "C" allele could have a protective role on preserving residual β-cell mass and could predict both onset and duration of PR among newly diagnosed T1D. These findings support the growing concept of future tailored precision medicine.

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来源期刊
CiteScore
2.70
自引率
7.10%
发文量
176
审稿时长
3-6 weeks
期刊介绍: The aim of the Journal of Pediatric Endocrinology and Metabolism (JPEM) is to diffuse speedily new medical information by publishing clinical investigations in pediatric endocrinology and basic research from all over the world. JPEM is the only international journal dedicated exclusively to endocrinology in the neonatal, pediatric and adolescent age groups. JPEM is a high-quality journal dedicated to pediatric endocrinology in its broadest sense, which is needed at this time of rapid expansion of the field of endocrinology. JPEM publishes Reviews, Original Research, Case Reports, Short Communications and Letters to the Editor (including comments on published papers),. JPEM publishes supplements of proceedings and abstracts of pediatric endocrinology and diabetes society meetings.
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