Analysis of the interaction of the vitamin D receptor gene alleles in myopia
Year: 2021, volume 17 Issue: №2 Pages: 286-291
Heading: Тhematic supplement Article type: Original article
Authors: Gorbunova V.Yu., Rezbaeva G.N., Vorobyeva E.V., Galimova V.U.
Organization: Bashkir State Medical University of the Russian Health Care, Bashkir State Pedagogical University, Institute of Education Development of the Republic of Bashkortostan, Russian Eye and Plastic Surgery Center
Heading: Тhematic supplement Article type: Original article
Authors: Gorbunova V.Yu., Rezbaeva G.N., Vorobyeva E.V., Galimova V.U.
Organization: Bashkir State Medical University of the Russian Health Care, Bashkir State Pedagogical University, Institute of Education Development of the Republic of Bashkortostan, Russian Eye and Plastic Surgery Center
Summary:
Objective: to analyze the interaction of the vitamin D receptor (VDR) gene alleles in patients with myopia for use in its personalized early diagnosis and prevention. Material and Methods. The total sample of the study consisted of DNA samples of 226 people living on the territory of the Russian Federation. The control sample included 103 people: 45 men (43%) and 58 women (56%) with initial emmetropia (PZO length is 22.4-24.2 mm). DNA from venous blood was isolated according to С Mathew by the phenol-chloroform extraction method. Genotyping was performed using the KASP™ Real-time, PCR method. Results. For the first time, the study of the combined effect of four alleles of the VDR gene on the functioning of various structures of the ocular apparatus, the violation of which can lead to the development of myopia, was carried out. Haplotype analysis revealed a protective combination of alleles b/b (rs1544410, Bsml) and T/T (rs2228570, Fok1) of the VDR gene, which provides normal synthesis of sclera collagen (p=0.03, x2 =4.51). Conclusion. Haplotypes B/B (rs1544410, Bsml) C/C (rs2228570) and B/b (rs1544410, Bsml) C/C (rs2228570) in the VDR gene were identified, which characterize the development of complicated myopia and can be used as diagnostic markers for early detection of predisposition to myopia and predictive and preventive measures.
Keywords: collagen, vitamin D receptor gene
Bibliography:
1. Artaza JN, Norris КС. Vitamin D reduces the expression of collagen and key profibrotic factors by inducing an antifibrotic phenotype in mesenchymal multipotent cells. J Endocrinol 2009; 200 (2): 207-21.
2. Haussler MR, Whitfield GK, Haussler CA, et al. The nuclear vitamin D receptor: biological and molecular regulatory properties revealed. J Bone Miner Res 1998; (13): 325-49.
3. Andrew R, Baker R, Yong S, et al. Cloning and expression of full-legth cDNA, encoding Human vitamin D receptor. Proc Nat Acad Sci USA 1988; (85): 3294-8.
4. Uitterlinden AG, Fang Y, Van Meurs JB. Genetics and biology of vitamin D receptor polymorphisms. Gene 2004; 338 (2): 143-56.
5. Kutikhin AG, Yuzhalin AE, Ponasenko AV Modern trends in statistical data processing and presentation of results in candidate genetic and epidemiological studies. Fundamental and Clinical Medicine 2017; 2 (2): 77-82.
6. Mathew СС. The isolation of high molecular weight eukaryotic DNA. In: Walker JM, ed. Methods in Molecular Biology. Human Press, 1984. Vol. 2, p. 31-4.
7. Amano Y, Komiyama K, Makishima M. Vitamin D and periodontal disease. J Oral Sci 2009; 51 (1): 11-20.
8. Johnson JA, Grande JP, Roche PC, et al. Immuno-localization of the calcitriol receptor, calbindin-D28k and the plasma membrane calcium pump in the human eye. Curr Eye Res 1995; 14(2): 101-8.
| Attachment | Size |
|---|---|
| 2021_02-1_286-291.pdf | 364.16 KB |
Русский
English