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المؤلفTomei, Sara
المؤلفSingh, Parul
المؤلفMathew, Rebecca
المؤلفMattei, Valentina
المؤلفGarand, Mathieu
المؤلفAlwakeel, Mariam
المؤلفSharif, Elham
المؤلفKhodor, Souhaila Al
تاريخ الإتاحة2023-10-15T11:19:50Z
تاريخ النشر2020-08-27
اسم المنشورNutrients
المعرّفhttp://dx.doi.org/10.3390/nu12092608
الاقتباسTomei, S., Singh, P., Mathew, R., Mattei, V., Garand, M., Alwakeel, M., ... & Al Khodor, S. (2020). The role of polymorphisms in vitamin D-related genes in response to vitamin D supplementation. Nutrients, 12(9), 2608.
معرّف المصادر الموحدhttps://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85090102875&origin=inward
معرّف المصادر الموحدhttp://hdl.handle.net/10576/48509
الملخصBackground. Vitamin D deficiency represents a major healthcare problem. Vitamin D status is influenced by genetic and environmental determinants. Several observational studies have evaluated the association of single-nucleotide polymorphisms (SNPs) in vitamin D-related genes and vitamin D levels. Nevertheless, little is known about the role of these SNPs in the response to vitamin D supplementation. We conducted an interventional study to define the association between SNPs in vitamin D-related genes and the response to vitamin D supplementation in 100 self-reported healthy women of Arab ancestry for the majority. Methods. A total of 100 healthy female subjects received a weekly oral dose of 50,000 IU vitamin D for 12 weeks. Serum vitamin D concentration and metabolic profiles were measured at baseline and 12 weeks post-vitamin D supplementation. The genotypes of 37 SNPs selected from previously reported vitamin D-related genes have been assessed by Fluidigm genotyping assay. Results. Rs731236 (VDR gene) and rs7116978 (CYP2R1 gene) showed a significant association with vitamin D status. The rs731236 GG genotype and the rs7116978 CC genotype were associated with a “vitamin D sufficiency” state. Rs731236 GG and rs7116978 CC genotypes showed a higher response to vitamin D supplementation. Transcription factor binding site prediction analysis showed altered binding sites for transcription factors according to the different rs7116978 alleles. Interestingly, the 37 SNPs previously established to play a role in vitamin D-related pathways explained very little of the response to vitamin D supplementation in our cohort, suggesting the existence of alternative loci whose number and effect size need to be investigated in future studies. Conclusion. In this paper, we present novel data on vitamin D-related SNPs and response to vitamin D supplementation demonstrating the feasibility of applying functional genomic approaches in interventional studies to assess individual-level responses to vitamin D supplementation.
راعي المشروعThis study was supported by funds from Qatar University, Grant ID: QUCP-CHS-17\18-1.
اللغةen
الناشرMultidisciplinary Digital Publishing Institute (MDPI)
الموضوع25(OH)D
25-hydroxyvitamin D
Blood
Polymorphisms
Single-nucleotide polymorphism
SNP
Vitamin D
Vitamin D deficiency
العنوانThe role of polymorphisms in vitamin d-related genes in response to vitamin d supplementation
النوعArticle
رقم العدد9
رقم المجلد12
ESSN2072-6643
dc.accessType Open Access


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