Vitamin D Genetics Beyond Serum 25(OH)D: VDR rs2228570 (FokI) Polymorphism, Inflammation, and Quality of Life in Orthopedic Patients
- PMID: 41010452
- PMCID: PMC12472729
- DOI: 10.3390/nu17182926
Vitamin D Genetics Beyond Serum 25(OH)D: VDR rs2228570 (FokI) Polymorphism, Inflammation, and Quality of Life in Orthopedic Patients
Abstract
Background: Vitamin D receptor (VDR) polymorphisms may influence immune regulation and musculoskeletal health, but their perioperative role is not well understood. This study investigated the rs2228570 (FokI) variant in relation to inflammatory, hematologic, and patient-reported outcomes in orthopedic patients.
Methods: We genotyped 300 orthopedic patients and 200 healthy controls using real-time PCR. Regression models in patients adjusted for age and body mass index (BMI) examined associations between rs2228570 genotypes and laboratory as well as clinical outcomes.
Results: The CC genotype (homozygous cytosine) was associated with higher white blood cell count (β = 0.52, p = 0.0435), higher lymphocyte count (β = 0.26, p = 0.00025), higher hemoglobin (β = 0.57, p = 0.00197), and higher hematocrit (β = 1.42, p = 0.01102). The TT genotype (homozygous thymine) was associated with higher C-reactive protein (β = 10.90, p = 0.00329), lower mean corpuscular volume (β = -1.63, p = 0.04909), and higher health-related quality of life assessed by the 36-Item Short-Form Health Survey (SF-36) (β = 6.31, p = 0.00009).
Conclusions: The rs2228570 polymorphism in the VDR gene is associated with distinct perioperative inflammatory, hematologic, and patient-reported profiles. These findings support the potential clinical utility of VDR genotyping, in combination with routine laboratory tests, to refine perioperative risk stratification and guide personalized rehabilitation in orthopedic patients.
Keywords: FokI polymorphism; blood biochemical markers; orthopedic surgery; quality of life; rs2228570; vitamin D receptor (VDR).
Conflict of interest statement
The authors declare no conflicts of interest.
References
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- Khammissa R.A.G., Fourie J., Dheda K., Feller L., Raubenheimer E.J., Lemmer J., Altini M. The Biological Activities of Vitamin D and Its Receptor in Relation to Calcium and Bone Homeostasis, Cancer, Immune and Cardiovascular Systems, Skin Biology, and Oral Health. Biomed Res. Int. 2018;2018:9276380. doi: 10.1155/2018/9276380. - DOI - PMC - PubMed
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- Ensembl Genome Browser VDR Gene (ENSG00000111424) [(accessed on 14 August 2025)]. Available online: https://www.ensembl.org/id/ENSG00000111424.
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