ORIGINAL RESEARCH article

Front. Genet.

Sec. Genetics of Common and Rare Diseases

Volume 16 - 2025 | doi: 10.3389/fgene.2025.1590750

Relationship of VDR and VDBP gene polymorphisms with sepsis susceptibility and prognosis

Provisionally accepted
Chan  LianChan LianKangtai  YingKangtai YingHaiyan  ShaoHaiyan ShaoHaiting  GuHaiting GuWenwei  MaoWenwei Mao*
  • First People's Hospital of Wenling, Wenling, China

The final, formatted version of the article will be published soon.

Objective: This research focused on the association of vitamin D receptor (VDR) and vitamin D binding protein (VDBP) gene polymorphisms with sepsis susceptibility and prognosis.Methods: 110 septic patients were selected as the sepsis group, and another 100 patients with common infections who did not develop sepsis as the control group. 28 d death of patients in the sepsis group were counted. Within 24 h of admission, patients were scored by Acute Physiology and Chronic Health Evaluation Ⅱ (APACHE Ⅱ) and Sequential Organ Failure Assessment (SOFA). Serum lactate (Lac), C-reactive protein (CRP), procalcitoninogen (PCT) and vitamin D levels were evaluated. All patient DNAs were extracted. The polymorphisms of VDR and VDBP genes and vitamin D genes Fok Ⅰ (rs2228570) and VDBP rs4588 locus were tested and compared in both groups; and the receiver operating characteristic (ROC) curves were plotted to calculate the area under the area under the curve (AUC) and assess the diagnostic value of each indicator for sepsis. Patients in the sepsis group were categorized into a death group and a survival group, the above indicators were compared in the two groups and the factors affecting the prognosis of sepsis patients were analyzed.Results: Compared to the control group, the sepsis group exhibited higher APACHE II scores, SOFA scores, serum Lac, CRP, PCT levels, VDR Fok Ⅰ (rs2228570) locus f allele and VDBP rs4588 locus A allele frequencies, and lower vitamin D levels (P < 0.05). The ROC curve analysis showed that the AUC for the diagnosis of sepsis using the AA genotype at the VDBP gene rs4588 locus was 0.579 (95% CI: 0.501-0.656) (sensitivity: 52.70%; specificity: 63.00%, P < 0.05). APACHE II and SOFA scores and serum levels of Lac, CRP, and PCT in the death group were raised and vitamin D levels were diminished than those in the survival group (P < 0.05). Raised APACHE II and SOFA scores were independent risk factors affecting sepsis prognosis.Conclusion: The f allele at the VDR Fok Ⅰ (rs2228570) locus and the A allele at the VDBP rs4588 locus significantly raise the risk of sepsis in patients.

Keywords: Sepsis, vitamin D receptor, vitamin D binding protein, gene polymorphism, susceptibility, prognosis

Received: 11 Mar 2025; Accepted: 16 Apr 2025.

Copyright: © 2025 Lian, Ying, Shao, Gu and Mao. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

* Correspondence: Wenwei Mao, First People's Hospital of Wenling, Wenling, China

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