Genetic influence on urinary vitamin D binding protein excretion and serum levels: a focus on rs4588 C>A polymorphism in the GC gene

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dc.contributor.authorDogan, Durmus
dc.contributor.authorOzcan, Eda Gul
dc.contributor.authorCakir, Dilek Ulker
dc.contributor.authorSılan, Fatma
dc.date.accessioned2025-01-27T20:11:41Z
dc.date.available2025-01-27T20:11:41Z
dc.date.issued2023
dc.departmentÇanakkale Onsekiz Mart Üniversitesi
dc.description.abstractIntroductionVitamin 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.MethodsA 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.ResultsParticipants 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).ConclusionIndividuals 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.
dc.description.sponsorshipanakkale Onsekiz Mart University Scientific Research Projects Coordination Unit [BTSA-2021-3603]
dc.description.sponsorshipThe author(s) declare financial support was received for the research, authorship, and/or publication of this article. It was supported by Canakkale Onsekiz Mart University Scientific Research Projects Coordination Unit as a project numbered BTSA-2021-3603.
dc.identifier.doi10.3389/fendo.2023.1281112
dc.identifier.issn1664-2392
dc.identifier.pmid38144557
dc.identifier.scopus2-s2.0-85180460295
dc.identifier.scopusqualityQ2
dc.identifier.urihttps://doi.org/10.3389/fendo.2023.1281112
dc.identifier.urihttps://hdl.handle.net/20.500.12428/20667
dc.identifier.volume14
dc.identifier.wosWOS:001128292800001
dc.identifier.wosqualityQ2
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherFrontiers Media Sa
dc.relation.ispartofFrontiers in Endocrinology
dc.relation.publicationcategoryinfo:eu-repo/semantics/openAccess
dc.rightsinfo:eu-repo/semantics/openAccess
dc.snmzKA_WoS_20250125
dc.subjectvitamin D binding protein
dc.subjectpolymorphism
dc.subjectRs4588
dc.subjectserum 25-hydroxyvitamin D
dc.subjectgC gene
dc.subjecturinary excretion
dc.titleGenetic influence on urinary vitamin D binding protein excretion and serum levels: a focus on rs4588 C>A polymorphism in the GC gene
dc.typeArticle

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