Polymorphism of GC gene, encoding vitamin D binding protein, in aboriginal populations of Siberia

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Abstract

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.

About the authors

Boris A. Malyarchuk

Institute of Biological Problems of the North, Far Eastern Branch of Russian Academy of Sciences

Author for correspondence.
Email: malyarchuk@ibpn.ru
ORCID iD: 0000-0002-0304-0652

Dr. Biol. Sci., Head of Genetics Laboratory

Russian Federation, Magadan

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