scholarly journals Vitamin-D Binding Protein Gene Polymorphisms and Serum 25-Hydroxyvitamin-D in a Turkish Population

Metabolites ◽  
2021 ◽  
Vol 11 (10) ◽  
pp. 696
Author(s):  
Lutfiye Karcıoğlu Batur ◽  
Ahmet Özaydın ◽  
Murat Emrah Maviş ◽  
Gökçe Göksu Gürsu ◽  
Laurence Harbige ◽  
...  

The rs7041 and rs4588 polymorphisms found in the GC gene, encoding vitamin D-binding protein (DBP), have distinct biochemical phenotypes. The aim of this study was to investigate vitamin D parameters with these polymorphisms, in individuals with possible vitamin D deficiency. The most common (49% of the cohort) genotype in rs7041 was GT, especially among individuals with high levels of free 25(OH)D calculated but with low levels of bioavailable 25(OH)D, and in rs4588 it was AC in particular among the individuals with low levels of bioavailable 25(OH)D. The most common phenotypes were Gc1s/2 (35.3%) and Gc1s/1s (31.4%), and Gc1f/1f was rare (5.9%). The variations in free and bioavailable 25(OH)D levels among healthy Turkish individuals may be attributed to the variations in total 25(OH)D as well as GC gene polymorphisms. The Turkish population shares a similarity for allele frequencies of rs7041 with the European population and similarity for allele frequencies of rs4588 with Gujarati Indians, and this may also be important in relation to certain ethnic populations showing associations between vitamin D and COVID-19.

1993 ◽  
Vol 2 (10) ◽  
pp. 1750-1750 ◽  
Author(s):  
A. Braun ◽  
A. Kofler ◽  
R. Bichlmaier ◽  
S. Kammerer ◽  
H. Cleve

PLoS ONE ◽  
2019 ◽  
Vol 14 (12) ◽  
pp. e0226215
Author(s):  
Betânia Rodrigues Santos ◽  
Nathália Cruz Costa ◽  
Thais Rasia Silva ◽  
Karen Oppermann ◽  
Jose Antonio Magalhães ◽  
...  

2015 ◽  
Vol 16 (8) ◽  
pp. 3339-3344 ◽  
Author(s):  
Wanwisa Maneechay ◽  
Teeranut Boonpipattanapong ◽  
Samornmas Kanngurn ◽  
Puttisak Puttawibul ◽  
Sarayut Lucien Geater ◽  
...  

2020 ◽  
Author(s):  
Boris Malyarchuk

The analysis of the nucleotide sequences of exons and adjacent non-coding regions of the GC gene in 108 representatives of various ethnic groups of aboriginal population of Siberia was carried out. Polymorphism was found in four nucleotide positions: non-synonymous substitutions at the rs4588 and rs7041 loci, a synonymous substitution at the rs4752 locus, and a replacement in the non-coding region at the rs3733359 locus. Seven haplotypes of the GC gene were identified. Of these, 4 haplotypes encode the Gc1F isoform, 2 haplotypes encode the Gc1S isoform, and 1 haplotype encodes the Gc2 isoform. Between-regional differences were found in the distribution of variants of the GC gene: in the northeast and in the central part of Siberia, the highest prevalence of the Gc1F and Gc1F / Gc1F variants is observed, and in the south and west of Siberia, the Gc2, Gc1S / Gc2 and Gc2 / Gc2 variants are most common. In the case of the GC gene, gene-environment interactions are apparently aimed at creating a balance between the activity of vitamin D-binding protein and the level of 25-hydroxyvitamin D in the blood serum.


2019 ◽  
Vol 29 (08) ◽  
pp. 715-719 ◽  
Author(s):  
Aysha Khan ◽  
Lena Jafri ◽  
Areeba Siddiqui ◽  
Ghazala Naureen ◽  
Howard Morris ◽  
...  

2017 ◽  
Vol 305 ◽  
pp. 92-95 ◽  
Author(s):  
Cristina Agliardi ◽  
Franca Rosa Guerini ◽  
Milena Zanzottera ◽  
Elisabetta Bolognesi ◽  
Andrea Saul Costa ◽  
...  

2011 ◽  
Vol 38 (10) ◽  
pp. 2224-2229 ◽  
Author(s):  
KYONG-HEE JUNG ◽  
TAE-HWAN KIM ◽  
DONG-HYUK SHEEN ◽  
MI-KYOUNG LIM ◽  
SANG-KWANG LEE ◽  
...  

Objective.Genetic factors account for more than 90% of overall susceptibility to ankylosing spondylitis (AS), and recent studies have focused on non-major histocompatibility complex genes. Vitamin D binding protein (DBP) is a highly polymorphic protein that transports vitamin D and its metabolites. In addition to its sterol binding capacity, DBP has many other roles in the inflammatory and immune systems, and has been reported to be associated with autoimmune diseases. We investigated the association between DBP polymorphisms and susceptibility to AS.Methods.This case-control study was conducted in 223 patients with AS and 239 ethnically matched controls who were genotyped for 8 single-nucleotide polymorphisms (SNP) in the DBP and its promoter. Genomic DNA was isolated from peripheral blood leukocytes using the standard phenolchloroform method, and the GoldenGate assay was used for genotyping.Results.No significant association was found between the susceptibility to AS and DBP polymorphisms. In a subgroup analysis of patients with AS, G alleles at rs222016 and rs222020 (OR 0.63, 95% CI 0.42–0.95, p = 0.03; OR 0.63, 95% CI 0.42–0.95, p = 0.03, respectively) and A allele at rs3733359 (OR 0.59, 95% CI 0.39–0.90, p = 0.01) showed the decreased risk of peripheral arthritis. G allele at rs4752 showed increased risk of uveitis (OR 2.04, 95% CI 1.12–3.72, p = 0.02). On the haplotype analyses, haplotype 2 (AGGA) protected against the development of peripheral arthritis (p = 0.01) and haplotype 3 (GAAG) was associated with an increased likelihood of uveitis (p = 0.02).Conclusion.DBP gene polymorphisms are associated with the development of peripheral arthritis and uveitis in Korean patients with AS. Given the influence of different DBP variants on the immune system, larger-scale studies are warranted to elucidate the role of DBP in the pathogenesis of AS.


2015 ◽  
Vol 125 (1-2) ◽  
pp. 8-17 ◽  
Author(s):  
Alicja E. Grzegorzewska ◽  
Grzegorz Ostromecki ◽  
Adrianna Mostowska ◽  
Anna Sowińska ◽  
Paweł P. Jagodziński

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