ISSN 2412-4036 (print)
ISSN 2713-1823 (online)

BsmI polymorphism of the vitamin D receptor gene in non-alcoholic fatty liver disease associated with type 2 diabetes mellitus

A.V. Yagoda, E.O. Demurcheva, P.V. Koroy, T.R. Dudov

1) Stavropol State Medical University, Stavropol, Russian Federation; 2) Regional Endocrinology Dispensary, Stavropol, Russian Federation
Abstract. Genetic variations associated with the vitamin D – vitamin D receptor (VDR) direction may play a role in the pathogenesis of non-alcoholic fatty liver disease (NAFLD). However, the impact of VDR gene polymorphisms on liver pathology has been poorly studied.
The aim: to investigate the association between BsmI polymorphism of the VDR gene and the manifestations of NAFLD in patients with type 2 diabetes mellitus (T2DM).
Material and methods. 167 patients with T2DM and 101 apparently healthy individual (control group) were included in the study. NAFLD was detected in 76.0% of patients with T2DM. Severe liver steatosis was observed in 30.7% of cases, F3–4 fibrosis was observed in 14.2% of NAFLD cases. Blood vitamin D levels were assessed using enzyme-linked immunosorbent assay, BsmI single-nucleotide polymorphism (rs1544410, A>G) of VDR gene was studied using PCR analysis.
Results. BsmI polymorphism of the VDR gene was not associated with the development of NAFLD in patients with T2DM. AA genotype and A allele of the BsmI polymorphism were associated with an increased risk of cytolytic syndrome and F3–4 liver fibrosis in the presence of NAFLD. The risk of obesity, abdominal obesity, and metabolic syndrome was reduced in NAFLD patients with GG genotype and allele G. BsmI polymorphism of the VDR gene was not associated with T2DM characteristics, presence of dyslipidemia, hypertension, or the severity of steatosis in case of NAFLD.
Conclusion. BsmI polymorphism of the VDR gene is associated with obesity, abdominal obesity, metabolic syndrome, the presence of cytolytic syndrome, and F3–4 liver fibrosis in patients with NAFLD that developed in the presence of T2DM.

Keywords

non-alcoholic fatty liver disease
type 2 diabetes mellitus
liver fibrosis
vitamin D receptor
BsmI polymorphism of the VDR gene

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About the Authors

Alexander V. Yagoda, MD, Dr. Sci. (Medicine), professor, Honored Scientist of the Russian Federation, head of the Department of hospital therapy, Stavropol State Medical University, Stavropol, Russian Federation.
E-mail: alexander.yagoda@gmail.com
ORCID: https://orcid.org/0000-0002-5727-1640. Scopus ID: 7007153293. eLibrary SPIN: 9651-9754
Elena O. Demurcheva, MD, endocrinologist at Regional endocrinology dispensary, Stavropol, Russian Federation.
E-mail: demurcheva.elena@yandex.ru
ORCID: https://orcid.org/0009-0007-7590-6201
Pavel V. Koroy, MD, Dr. Sci. (Medicine), professor, professor of the Department of hospital therapy, Stavropol State Medical University, Stavropol, Russian Federation.
E-mail: paule75@yandex.ru
ORCID: https://orcid.org/0000-0001-6392-8461. Scopus ID: 56288630200. eLibrary SPIN: 3313-7866
Temirlan R. Dudov, MD, PhD (Medicine), assistant at the Department of hospital therapy, Stavropol State Medical University, Stavropol, Russian Federation.
E-mail:timur222123@mail.ru
ORCID: https://orcid.org/0009-0006-7244-3507. eLibrary SPIN: 1608-7287

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