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oai:recercat.cat:11351/125592025-10-24T10:41:57Zcom_2072_378070com_2072_378040col_2072_378092

Polymorphisms of the Vitamin D Binding Protein (VDBP) and Free Vitamin D in Patients with Cystic Fibrosis Quesada-Colloto, Paula Avello-Llano, Noelia Reyes-Domínguez, Ana Isabel GARCIA ROMERO, RUTH Garriga, María Álvarez Beltran, Marina Institut Català de la Salut [Quesada-Colloto P] Primary Care Pediatric Service of Principality of Asturias, Centro de Salud de Ventanielles, Oviedo, Spain. [Avello-Llano N] Clinical Biochemistry Service, Hospital Universitario Central de Asturias (HUCA), Oviedo, Spain. [García-Romero R] Pediatric Gastroenterology and Nutrition Section, Hospital Universitario Miguel Servet, Zaragoza, Spain. [Garriga-García M] Cystic Fibrosis Section, Hospital Universitario Ramón y Cajal, Madrid, Spain. [Álvarez-Beltrán M] Unitat de Gastroenterologia, Hepatologia, Suport Nutricional i Trasplantaments Hepàtics Pediàtrics, Vall d’Hebron Hospital Universitari, Barcelona, Spain. [Reyes-Domínguez AI] Pediatric Gastroenterology and Nutrition Section, Complejo Hospitalario Universitario Insular-Materno Infantil, Las Palmas de Gran Canaria, Spain Vall d'Hebron Barcelona Hospital Campus Marcadors bioquímics Fibrosi quística - Aspectes genètics Avitaminosi D Vitamina D Proteïnes portadores Polimorfisme genètic DISEASES::Digestive System Diseases::Pancreatic Diseases::Cystic Fibrosis Other subheadings::Other subheadings::Other subheadings::/genetics CHEMICALS AND DRUGS::Biological Factors::Biomarkers DISEASES::Nutritional and Metabolic Diseases::Nutrition Disorders::Malnutrition::Deficiency Diseases::Avitaminosis::Vitamin D Deficiency CHEMICALS AND DRUGS::Amino Acids, Peptides, and Proteins::Proteins::Carrier Proteins::Vitamin D-Binding Protein PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::Polymorphism, Genetic ENFERMEDADES::enfermedades del sistema digestivo::enfermedades pancreáticas::fibrosis quística Otros calificadores::Otros calificadores::Otros calificadores::/genética COMPUESTOS QUÍMICOS Y DROGAS::factores biológicos::biomarcadores ENFERMEDADES::enfermedades nutricionales y metabólicas::trastornos nutricionales::desnutrición::enfermedades carenciales::avitaminosis::deficiencia de vitamina D COMPUESTOS QUÍMICOS Y DROGAS::aminoácidos, péptidos y proteínas::proteínas::proteínas transportadoras::proteína de unión a vitamina D FENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::polimorfismo genético Cystic fibrosis; Vitamin D Fibrosis quística; Vitamina D Fibrosi quística; Vitamina D Objectives/Background: Vitamin D-binding protein (VDBP) and free vitamin D are new markers that are being studied as a possible markers of vitamin D status. The main aim of our study was to analyze the VDBP genotype and quantify the levels of free vitamin D in a sample of cystic fibrosis (CF) patients. Methods: We conducted a multicenter, cross-sectional, and prospective study including patients with CF and exocrine pancreatic insufficiency who were clinically stable. We investigated vitamin D levels (total and free) and the different VDBP haplotypes. Free vitamin D levels were measured using an electro-chemiluminescence assay. Results: A sample of 48 patients was obtained (52% male; median age 13.8 years). The most common allele of VDBP was Gc1s (72%) > Gc2 (52%) > Gc1f (27%). The median calcidiol was 21.2 ng/mL (IR 15.3–26.9), and 81% had levels in the insufficiency range: 23 patients (48%) below 20 ng/mL, and 16 (33%) between 20 and 30 ng/mL. The median free vitamin D level was 4.2 pg/mL (IR 3.9–5.6). A positive correlation was observed between calcidiol and free vitamin D levels (r = 0.871; p < 0.0001). After adjustment for season, vitamin D supplementation, sex, and CF-related diabetes, patients with Gc1f polymorphism had a lower risk of vitamin D deficiency, OR 0.22 (95% CI 0.05–0.99), and p = 0.027. A negative linear trend was observed between the polymorphisms grouped into three categories (Gc1/Gc1, Gc1/Gc2, and Gc2/Gc2, in that order) and vitamin D and free vitamin D levels (p = 0.025 and p = 0.033, respectively). Conclusion: In CF, as in the general population, the most common VDBP haplotype in the Caucasian race is Gc1s. VDBP polymorphisms influence serum vitamin D and free vitamin D levels in CF patients. There is a good correlation between free vitamin D and calcidiol levels, suggesting that measuring the latter in CF does not seem to provide any additional benefit. This research was funded by the Ernesto Sanchez Villares Foundation; the Society of Pediatrics of Asturias, Cantabria, and Castilla y León (SCCALP), grant number 2020/01 call; and the Spanish Society of Pediatric Gastroenterology Hepatology and Nutrition (SEGHNP) (2021 call). 2025-02-06T09:21:27Z 2025-02-06T09:21:27Z 2024-11-11 info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion Quesada-Colloto P, Avello-Llano N, García-Romero R, Garriga-García M, Álvarez-Beltrán M, Reyes-Domínguez AI, et al. Polymorphisms of the Vitamin D Binding Protein (VDBP) and Free Vitamin D in Patients with Cystic Fibrosis. Nutrients. 2024 Nov 11;16(22):3850. 2072-6643 https://hdl.handle.net/11351/12559 10.3390/nu16223850 39599636 001367134200001 http://hdl.handle.net/11351/12559 eng Nutrients;16(22) https://doi.org/10.3390/nu16223850 Attribution 4.0 International http://creativecommons.org/licenses/by/4.0/ info:eu-repo/semantics/openAccess application/pdf MDPI Scientia