Marat Ospanov West Kazakhstan Medical University
Name of the priority direction of science development: Science of life and health.
Agreement with the Ministry of Education and Science of the Republic of Kazakhstan: No. 255/12-2 of 06/15/2021.
Relevance:
Children are a sensitive group for the development of vitamin D deficiency. The role of genetic factors modulating the development of bone metabolism disorders is discussed. Studies by foreign authors on twins have shown that the serum level of 25 (OH) D has a direct effect on genetic factors. Current research reports association of circulating 25(OH)D levels and polymorphisms of genes encoding vitamin D binding protein (GC), vitamin D receptor (VDR), vitamin D 1α-hydroxylase (CYP27B1) and 25-hydroxylase (CYP2R1) by gene analysis -candidate. The study of the relationship between vitamin D status and candidate genes is of legitimate scientific interest. There are no studies showing the relationship between gene polymorphism and the manifestation of vitamin D deficiency in children under one year of age in the Kazakh population.
Purpose: To study D – vitamin status and features of allelic polymorphism of genes – VDR (rs1544410, rs2228570), RANKL (rs 9594738, rs9594759) in children of the Kazakh population
Expected results:
Identification of statistically significant differences in the occurrence of alleles of VDR (rs1544410, rs2228570), RANKL (rs 9594738, rs9594759,) gene polymorphisms in combination with vitamin D status in children under one year old in the Kazakh population. The relative risk of skeletal pathology in the groups of allelic variants of the VDR (rs1544410, rs2228570), RANKL (rs 9594738, rs9594759,) genes>1.
Publication of articles in peer-reviewed scientific journals: 1 article in journals with at least 35 (thirty-five) percentile CiteScore in the Scopus database;
Revealed results:
As a result of the studies, it was revealed that the average level of vitamin D provision in children corresponded to deficiency and averaged 20.16 ± 1.7 ng/ml. The frequency of various allelic variants of genes was determined in 54% of children, homozygous type CC according to RANKL rs9594759 and TT-17%, respectively, heterozygous CT-33%. According to RANKL rs9594738 homozygous type CC in 59% and TT in 28%, heterozygous CT-15%. According to VDR rs2228570 homozygous type CC in 52% and TT-17%, heterozygous CT-31%. VDR for rs2228570 homozygous type GG is observed in 76%, AA-4% and heterozygous GA-20% of children under one year old in the Kazakh population.
A relationship was found between the presence of VDR genes (rs1544410, rs2228570), RANKL (rs 9594738, rs9594759,) and the severity of D vitamin status in children under one year of age in the Kazakh population. It was found that RANKL rs9594738 has an average relationship between CC-CT genotypes and vitamin D (p=0.043) and a relatively strong relationship between CT-TT genotypes and vitamin D (p=0.008). According to RANKL rs9594759, an average relationship between CC-CT genotypes and vitamin D (p=0.033) and a relatively strong relationship between CT-TT genotypes and vitamin D (p=0.026). According to VDR rs2228570, the average association between CC-CT genotypes and vitamin D (p=0.047);
It has been proven that the nature of the relationship between the T/T and T/C genotypes of the VDR gene and a change in the concentration of vitamin D below the normal value is observed to be relatively strong, which proves the existence of a direct relationship between the level of vitamin D and the risk of developing pathology of the skeletal system in children (F>0.05 units).
Supervisor:
Zhumalina Akmaral Kanashevna Doctor of Medical Sciences, Professor
Research interests: Children, neonatology, premature babies, reproductive age, intrauterine infections, ecology, gas, oil, chromium processing regions, morbidity.
The total number of publications – 166, including 55 for the last 3 years, experience in the direction of the project – 11 years
Author’s certificates – 10, patent for invention – 4
Hirsch index-2.0
ORCID ID:0000-0002-4583-57779
- Tusupkaliyev Balash – Doctor of Medical Sciences, Professor, Academician of the RANH
ORCID ID:0000-0001-5693-8346
3.Kim Irina Sergeevna assistant of the department, doctoral student 2 years of study
ORCID ID:0000-0003-0304-3156
Copyright certificate No. 20379 dated 09/22/2021
Research report 
Vitamin D receptor gene polymorphism among children (literature review) Жумалина А.К., Тусупкалиев Б., Ким И.С., Жарлыкасинова М.Б
Acts:
No. 176 of October 25, 2021 “The use of blood serum vitamin D in assessing the level of metabolic disorders in newborns” Zhumalina A.K., Tusupkaliev B.T., Zharlykasinova M.B., Zhekeyeva B.A., Asanova S.S. , Ergalieva G.Zh.
No. 178 dated 10.25.2021 “The use of blood serum vitamin D in assessing the level of metabolic disorders in newborns” implementation of the research work of ZKMU named after Marat Ospanov Zhumalina A.K., Tusupkaliev B.T., Voloshina L.V., Kim I.S., Egshatyan N.V., Zame Yu.A.
International conferences:
1.International scientific and practical conference: “Modern Medicine: A New Approach and Current Research” among medical educational organizations in Kazakhstan, near and far abroad, timed to coincide with the World Day against Osteoporosis 20.10.21 Marat Ospanov ZKMU “Gene polymorphism associated with the risk of developing hypovitaminosis D in young children of the Kazakh population”
4. Interregional scientific and practical conference with international participation “Actual problems of modern pediatrics” in the framework of the information project of the Ministry of Health of the Saratov region and the Saratov State Medical University named after. IN AND. Razumovsky of the Ministry of Russia 10/23/2021 Saratov “Genetic polymorphism of vitamin D deficiency in children of the Kazakh population”
An article is being prepared in Scopus:
“Features of D-vitamin status in young children in the Kazakh population” Zhumalina A.K., Kim I.S., Tusupkaliev B., Zharlykasinova M.B., Zhekeyeva B.A.
