Genetic influence on urinary vitamin D binding protein excretion and serum levels: a focus on rs4588 C>A polymorphism in the GC gene Article Swipe
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· 2023
· Open Access
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· DOI: https://doi.org/10.3389/fendo.2023.1281112
Introduction Vitamin D binding protein (VDBP) plays a crucial role in vitamin D transport and metabolism. The rs4588-A polymorphism of the GC gene, encoding VDBP, has been associated with altered serum VDBP and 25-hydroxyvitamin D (25OHD) levels. However, the mechanisms underlying these effects remain unclear. We aimed to investigate the relationship between urinary VDBP excretion and serum VDBP and 25OHD levels in individuals with and without the rs4588-A allele. Methods A cross-sectional study was conducted on 109 children (mean age: 11.96 years) to explore the impact of rs4588-A on vitamin D metabolism and urinary VDBP excretion. Biochemical analyses determined serum 25OHD and VDBP levels, and urinary VDBP-to-creatinine ratio (u-VDBP/Cr). Genotyping for rs4588 SNP was performed using LightSNiP assay. Statistical analyses included correlation, linear regression, and comparison between allele groups. Results Participants carrying the rs4588-A allele exhibited lower serum 25OHD levels compared to non-carriers (median (IQR): 11.85 (3.5) vs. 12.86 (4.9), p = 0.023). However, no statistically significant differences were observed in serum VDBP levels (126.34 ± 59.3 in rs4588-A vs. 136.49 ± 51.3 in non-rs4588-A, p = 0.141) or in u-VDBP/Cr (median (IQR): 0.4 (0.35) in rs4588-A vs. 0.386 (0.43) in non-rs4588-A, p = 0.189) between the two allele groups. A significant inverse correlation between u-VDBP/Cr and serum VDBP levels was found only in rs4588-A carriers (r = -0.367, p = 0.024). No such correlation was observed in non-carriers or the entire cohort. A linear regression analysis confirmed the impact of u-VDBP/Cr on serum VDBP levels in rs4588-A carriers (B = -0.269, t = -2.185, p = 0.035). Conclusion Individuals with the rs4588-A allele in the GC gene had lower serum 25OHD levels. An inverse correlation between urinary VDBP excretion and serum VDBP levels was observed, suggesting a partial role of the renal pathway in altered serum VDBP and 25OHD levels linked to the rs4588-A allele.
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- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.3389/fendo.2023.1281112
- https://www.frontiersin.org/articles/10.3389/fendo.2023.1281112/pdf?isPublishedV2=False
- OA Status
- gold
- Cited By
- 4
- References
- 32
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4389435790
Raw OpenAlex JSON
- OpenAlex ID
-
https://openalex.org/W4389435790Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.3389/fendo.2023.1281112Digital Object Identifier
- Title
-
Genetic influence on urinary vitamin D binding protein excretion and serum levels: a focus on rs4588 C>A polymorphism in the GC geneWork title
- Type
-
articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2023Year of publication
- Publication date
-
2023-12-07Full publication date if available
- Authors
-
Durmuş Doğan, Eda Gül Özcan, Dilek Ülker Çakır, Fatma SılanList of authors in order
- Landing page
-
https://doi.org/10.3389/fendo.2023.1281112Publisher landing page
- PDF URL
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https://www.frontiersin.org/articles/10.3389/fendo.2023.1281112/pdf?isPublishedV2=FalseDirect link to full text PDF
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YesWhether a free full text is available
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goldOpen access status per OpenAlex
- OA URL
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https://www.frontiersin.org/articles/10.3389/fendo.2023.1281112/pdf?isPublishedV2=FalseDirect OA link when available
- Concepts
-
Vitamin D-binding protein, Vitamin D and neurology, Medicine, Excretion, Internal medicine, Single-nucleotide polymorphism, Genotype, Endocrinology, Biology, Gene, GeneticsTop concepts (fields/topics) attached by OpenAlex
- Cited by
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4Total citation count in OpenAlex
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2025: 3, 2024: 1Per-year citation counts (last 5 years)
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32Number of works referenced by this work
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10Other works algorithmically related by OpenAlex
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