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The study of children under one year of age for molecular genetic testing-VDR (rs1544410, rs2228570), RANKL (rs9594738, rs9594759) with the study of the frequency distribution of alleles and genotypes by polymorphisms, analysis of the relationship of molecular genetic markers with indicators of bone metabolism.
Children under the age of one year of Kazakh nationality born in Aktobe will be examined.
Each child included in the study will have an individual registration card, where information about the health status of the child and the health status of the mother during pregnancy will be filled in.
A biochemical analysis will be determined for the level of calcium, phosphorus, calcitonin, parathyroid hormone, osteocalcin, vitamin D in blood serum and deoxypyridinoline in urine.
Blood will be taken to determine the genetic polymorphism of VDR (rs1544410, rs2228570), RANKL (rs9594738, rs9594759).
The state of bone tissue remodeling (osteocalcin, vitamin D, Ca, P, calcitonin, deoxypyridinoline) will be revealed The frequencies of allelic variants of the VDR (rs1544410, rs2228570), RANKL (rs9594738, rs9594759) genes in children under the age of one year in the population of Kazakhstan were determined.
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| Measure | Description | Time Frame |
|---|---|---|
| Optimization of the method for diagnosing bone metabolism disorders in children under one year old in the Kazakh population | The state of bone metabolism was assessed using the quantitative content of calcium, phosphorus, vitamin D, osteocalcin, and parathyroid hormone. | 2 years |
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Inclusion Criteria:
-Children 0 -12 months old
Exclusion Criteria:
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In accordance with the goal and objectives of the project, 245 children under the age of one year from the Kazakh population born in Aktobe will be examined. (N*-13500, p=16% n=204 +20%(41)=245 children).
*N is the total fertility of children; n is how many children should be taken + 20% losses. total for research you need 245
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Irina Kim | Contact | +7015281354 | irina.kim.90@mail.ru | |
| Mairamkul Zharlykasinova | Contact | +77086454298 | kimsab@mail.ru |
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Irina Kim | Recruiting | Aktobe | 040017 | Kazakhstan |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 28786260 | Result | Bizzaro G, Antico A, Fortunato A, Bizzaro N. Vitamin D and Autoimmune Diseases: Is Vitamin D Receptor (VDR) Polymorphism the Culprit? Isr Med Assoc J. 2017 Jul;19(7):438-443. | |
| 28445285 | Result | Bao L, Chen M, Lei Y, Zhou Z, Shen H, Le F. Association between vitamin D receptor BsmI polymorphism and bone mineral density in pediatric patients: A meta-analysis and systematic review of observational studies. Medicine (Baltimore). 2017 Apr;96(17):e6718. doi: 10.1097/MD.0000000000006718. |
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| 24400428 | Result | Basit S. Vitamin D in health and disease: a literature review. Br J Biomed Sci. 2013;70(4):161-72. doi: 10.1080/09674845.2013.11669951. |
| 29397388 | Result | Antonucci R, Locci C, Clemente MG, Chicconi E, Antonucci L. Vitamin D deficiency in childhood: old lessons and current challenges. J Pediatr Endocrinol Metab. 2018 Mar 28;31(3):247-260. doi: 10.1515/jpem-2017-0391. |