Полиморфизм BsmI гена рецептора витамина D при неалкогольной жировой болезни печени, ассоциированной с сахарным диабетом 2-го типа

1. Rinella ME, Neuschwander-Tetri BA, Siddiqui MS, Abdelmalek MF, Caldwell S, Barb D et al. AASLD Practice Guidance on the clinical assessment and management of nonalcoholic fatty liver disease. Hepatology. 2023;77(5):1797–835.

PMID: 36727674. PMCID: PMC10735173. https://doi.org/10.1097/HEP.0000000000000323

2. Younossi ZM, Golabi P, Paik JM, Henry A, Van Dongen C, Henry L. The global epidemiology of nonalcoholic fatty liver disease (NAFLD) and nonalcoholic steatohepatitis (NASH): A systematic review. Hepatology. 2023;77(4):1335–447.

PMID: 36626630. PMCID: PMC10026948. https://doi.org/10.1097/HEP.0000000000000004

3. Драпкина О.М., Евстифеева С.Е., Шальнова С.А., Куценко В.А., Баланова Ю.А., Имаева А.Э. с соавт. Распространенность неалкогольной жировой болезни печени и ее ассоциации с сердечно-сосудистыми факторами риска (данные российских эпидемиологических исследований). Кардиоваскулярная терапия и профилактика. 2025;24(2):6–16. (Drapkina OM, Evstifeeva SE, Shalnova SA, Kutsenko VA, Balanova YuA, Imaeva AE et al. Prevalence of non-alcoholic fatty liver disease and its association with cardiovascular risk factors (data from Russian epidemiological studies). Kardiovaskulyarnaya terapiya i profilaktika = Cardiovascular Therapy and Prevention. 2025;24(2):6–16 (In Russ.)).

EDN: CVQNXA. https://doi.org/10.15829/1728-8800-2025-4316

4. Aggeletopoulou I, Tsounis EP, Triantos C. Vitamin D and metabolic dysfunction-associated steatotic liver disease (MASLD): Novel mechanistic insights. Int J Mol Sci. 2024;25(9):4901.

PMID: 38732118. PMCID: PMC11084591. https://doi.org/10.3390/ijms25094901

5. Barchetta I, Cimini FA, Cavallo MG. Vitamin D and metabolic dysfunction-associated fatty liver disease (MAFLD): An update. Nutrients. 2020;12(11):3302.

PMID: 33126575. PMCID: PMC7693133. https://doi.org/10.3390/nu12113302

6. Lee S, Jin MH, Yoon JH. The contribution of vitamin D insufficiency to the onset of steatotic liver disease among individuals with metabolic dysfunction. Sci Rep. 2024;14(1):6714.

PMID: 38509247. PMCID: PMC10954610. https://doi.org/10.1038/s41598-024-57380-9

7. Yagoda AV, Koroy PV, Demurcheva EO, Hvatalin NE, Svetogurova AD, Sarithala VJ. Vitamin D as a marker of non-alcoholic fatty liver disease in patients with type 2 diabetes mellitus. Medical News of North Caucasus. 2023;18(2):131–135.

EDN: LUZTVN. https://doi.org/10.14300/mnnc.2023.18028

8. Zhao X, Sun J, Xin S, Xu X, Zhang X. Correlation between serum 25 (OH) D levels with insulin resistance and metabolic associated fatty liver disease – a retrospective study based on Chinese patients with newly diagnosed type 2 diabetes mellitus. Curr Diabetes Rev. 2025;21(7):56–66.

PMID: 38956910. https://doi.org/10.2174/0115733998297640240611065605

9. Huang N, Su X, Yu T, Wu X, Lu B, Sun W et al. Serum 25-hydroxy vitamin D level is associated with elastography-detected liver fibrosis in patients with type 2 diabetes mellitus in China. Front Endocrinol (Lausanne). 2024;15:1420088.

PMID: 39698035. PMCID: PMC11653015. https://doi.org/10.3389/fendo.2024.1420088

10. Yu H, Su X, Tao W, Sun W, Zhang X, Han Q et al. Prevalence and characteristics of liver steatosis and fibrosis in type 2 diabetes mellitus (T2DM) patients: A cross-sectional study in populations of eastern China. BMJ Open. 2024;14(12):e087550.

PMID: 39672583. PMCID: PMC11647396. https://doi.org/10.1136/bmjopen-2024-087550

11. Heo NJ, Park HE, Yoon JW, Kwak MS, Yang JI, Chung SJ et al. The association between vitamin D and nonalcoholic fatty liver disease assessed by controlled attenuation parameter. J Clin Med. 2021;10(12):2611.

PMID: 34199258. PMCID: PMC8231966. https://doi.org/10.3390/jcm10122611

12. Saberi B, Dadabhai AS, Nanavati J, Wang L, Shinohara RT, Mullin GE. Vitamin D levels do not predict the stage of hepatic fibrosis in patients with non-alcoholic fatty liver disease: A PRISMA compliant systematic review and meta-analysis of pooled data. World J Hepatol. 2018;10(1):142–54.

PMID: 29399288. PMCID: PMC5787678. https://doi.org/10.4254/wjh.v10.i1.142

13. Barchetta I, Del Ben M, Angelico F, Di Martino M, Fraioli A, La Torre G et al. No effects of oral vitamin D supplementation on non-alcoholic fatty liver disease in patients with type 2 diabetes: A randomized, double-blind, placebo-controlled trial. BMC Med. 2016;14:92.

PMID: 27353492. PMCID: PMC4926287. https://doi.org/10.1186/s12916-016-0638-y

14. Guo XF, Wang C, Yang T, Li S, Li KL, Li D. Vitamin D and non-alcoholic fatty liver disease: A meta-analysis of randomized controlled trials. Food Funct. 2020;11(9):7389–99.

PMID: 32966467. https://doi.org/10.1039/d0fo01095b

15. Tao T, Kobelski MM, Saini V, Demay MB. Adipose-specific VDR deletion leads to hepatic steatosis in female mice fed a low-fat diet. Endocrinology. 2022;163(2):bqab249.

PMID: 34878523. PMCID: PMC10061053. https://doi.org/10.1210/endocr/bqab249

16. Tourkochristou E, Mouzaki A, Triantos C. Gene polymorphisms and biological effects of vitamin D receptor on nonalcoholic fatty liver disease development and progression. Int J Mol Sci. 2023;24(9):8288.

PMID: 37175993. PMCID: PMC10179740. https://doi.org/10.3390/ijms24098288

17. Tourkochristou E, Tsounis EP, Tzoupis H, Aggeletopoulou I, Tsintoni A, Lourida T et al. The influence of single nucleotide pol-ymorphisms on vitamin D receptor protein levels and function in chronic liver disease. Int J Mol Sci. 2023;24(14):11404.

PMID: 37511164. PMCID: PMC10380285. https://doi.org/10.3390/ijms241411404

18. Jaroenlapnopparat A, Suppakitjanusant P, Ponvilawan B, Charoenngam N. Vitamin D-related genetic variations and nonalcoholic fatty liver disease: A systematic review. Int J Mol Sci. 2022;23(16):9122.

PMID: 36012386. PMCID: PMC9409408. https://doi.org/10.3390/ijms23169122

19. Zhang R, Wang M, Wang M, Zhang L, Ding Y, Tang Z et al. Vitamin D level and vitamin D receptor genetic variation were involved in the risk of non-alcoholic fatty liver disease: A case-control study. Front Endocrinol (Lausanne). 2021;12:648844.

PMID: 34421816. PMCID: PMC8377425. https://doi.org/10.3389/fendo.2021.648844

20. Gibson PS, Quaglia A, Dhawan A, Wu H, Lanham-New S, Hart KH et al. Vitamin D status and associated genetic poly-morphisms in a cohort of UK children with non-alcoholic fatty liver disease. Pediatr Obes. 2018;13(7):433–41.

PMID: 29761652. PMCID: PMC6032876. https://doi.org/10.1111/ijpo.12293

21. Jamka M, Arslanow A, Bohner A, Krawczyk M, Weber SN, Grünhage F et al. Effects of gene variants controlling vitamin D metabolism and serum levels on hepatic steatosis. Digestion. 2018;97(4):298–308.

PMID: 29514138. https://doi.org/10.1159/000485180

22. Arai T, Atsukawa M, Tsubota A, Koeda M, Yoshida Y, Okubo T et al. Association of vitamin D levels and vitamin D-related gene polymorphisms with liver fibrosis in patients with biopsy-proven nonalcoholic fatty liver disease. Dig Liver Dis. 2019;51(7):1036–42.

PMID: 30683615. https://doi.org/10.1016/j.dld.2018.12.022

23. Yaghooti H, Ghanavati F, Seyedian SS, Cheraghian B, Mohammadtaghvaei N. The efficacy of calcitriol treatment in non-alcoholic fatty liver patients with different genotypes of vitamin D receptor FokI polymorphism. BMC Pharmacol Toxicol. 2021;22(1):18.

PMID: 33827700. PMCID: PMC8028246. https://doi.org/10.1186/s40360-021-00485-y

24. Wang M, Wang M, Zhang R, Shen C, Zhang L, Ding Y et al. Influences of vitamin D levels and vitamin D-binding protein polymorphisms on nonalcoholic fatty liver disease risk in a Chinese population. Ann Nutr Metab. 2022;78(2):61–72.

PMID: 35100585. PMCID: PMC9116593. https://doi.org/10.1159/000522193

25. Arhin-Aidoo F, Fondjo LA, Obirikorang C, Owiredu EW, Senu E, Agomuo SKS, Laing EF. Association between vitamin D receptor gene variants and the risk of type 2 diabetes mellitus in a Ghanaian population. Sci Rep. 2025;15(1):26775.

PMID: 40702130. PMCID: PMC12287319. https://doi.org/10.1038/s41598-025-96731-y

26. Fatma H, Abdul SN. Association of vitamin D receptor gene BsmI polymorphism with type 2 diabetes mellitus in Pakistani population. Afr Health Sci. 2019;19(2):2164–71.

PMID: 31656501. PMCID: PMC6794500. https://doi.org/10.4314/ahs.v19i2.41

27. Gholami A, Montazeri-Najafabady N, Karimzadeh I, Dabbaghmanesh MH, Talei E. The effect of BsmI (rs1544410) single nucleotide polymorphism of vitamin D receptor (VDR) on insulin resistance in healthy children and adolescents: A cross-sectional study. BMC Pediatr. 2024;24(1):54.

PMID: 38233797. PMCID: PMC10792823. https://doi.org/10.1186/s12887-023-04503-2

28. Fteah AM, Mamdouh S, El-Shishtawy S, Sherif N, Aly DM. Role of vitamin D receptor genetic variants (ApaI and FokI) in association with nephropathy stages in a group of Egyptian patients with type 2 diabetes mellitus. Egypt J Immunol. 2025;32(2):57–69.

PMID: 40277331. https://doi.org/10.55133/eji.320206

29. Mitu MM, Toma TR, Nesa F, Rumpa FT, Khan F, Akter KA et al. Analysis of genetic association of vitamin D receptor (VDR) gene FokI polymorphism in Bangladeshi patients with type 2 diabetes mellitus. Gene. 2024;930:148863.

PMID: 39153706. https://doi.org/10.1016/j.gene.2024.148863

30. Sharifi A, Nouri M, Shakiba E, Ghorbani Z, Rahimi Z. The association of VDR FokI T>C (rs2228570) gene variants with T2DM, and its complications: Influence on BMI, oxidative stress, and dyslipidemia. J Clin Lab Anal. 2025;39(19):e70090.

PMID: 41020561. PMCID: PMC12514974. https://doi.org/10.1002/jcla.70090

31. Scalioni LP, Santos BRD, Spritzer PM, Villela-Nogueira CA, Laura Lewis-Ximenez L, Pollo-Flores P et al. Impact of vitamin D receptor and binding protein gene polymorphisms in clinical and laboratory data of HCV patients: Cross sectional study. Medicine (Baltimore). 2018;97(8):e9881.

PMID: 29465575. PMCID: PMC5842007. https://doi.org/10.1097/MD.0000000000009881

32. Triantos C, Aggeletopoulou I, Kalafateli M, Spantidea PI, Vourli G, Diamantopoulou G et al. Prognostic significance of vitamin D receptor (VDR) gene polymorphisms in liver cirrhosis. Sci Rep. 2018;8(1):14065.

PMID: 30218108. PMCID: PMC6138740. https://doi.org/10.1038/s41598-018-32482-3

33. Tsounis EP, Tourkochristou E, Sapsani A, Aggeletopoulou I, Lourida T, Ζisimopoulos Κ et al. The role of vitamin D receptor polymorphisms in the course of chronic hepatitis C infection. Ann Gastroenterol. 2022;35(2):203–12.

PMID: 35479594. PMCID: PMC8922255. https://doi.org/10.20524/aog.2022.0697

34. Nam SW, Choi J, Jeon HJ, Oh TK, Lee DH. The associations between vitamin D receptor BsmI and ApaI polymorphisms and obesity in Korean patients with type 2 diabetes mellitus. Diabetes Metab Syndr Obes. 2021;14:557–64.

PMID: 33603421. PMCID: PMC7882455. https://doi.org/10.2147/DMSO.S293032

35 Jin T, Lu W, Gong X, Zhou J, Wu F. Association of vitamin D receptor polymorphisms with metabolic syndrome-related components: A cross-sectional study. J Clin Lab Anal. 2021;35(7):e23829.

PMID: 34008880. PMCID: PMC8275005. https://doi.org/10.1002/jcla.23829

36. Zhao Y, Liu Z, Feng S, Yang R, Ran Z, Zhu R et al. The association between vitamin D receptor gene polymorphism FokI and type 2 diabetic kidney disease and its molecular mechanism: A case control study. BMC Med Genomics. 2024;17(1):288.

PMID: 39696279. PMCID: PMC11658427. https://doi.org/10.1186/s12920-024-02061-9

37. Ozhan B, Bilgihan E, Cetin O, Agladıoglu K. The relation of vitamin D receptor gene polymorphisms with risk of obesity, metabolic syndrome, hepatostetosis in Turkish children. Pamukkale Med J. 2023;16(2):274–80.

https://doi.org/10.31362/patd.1249471

38. Ozsoy S, Yigit S, Nursal AF, Ozsoy Z, Dasiran MF, Daldal E, Tekcan A. Genetic association of the BsmI variant of vitamin D receptor gene with risk of morbid obesity. Rev Assoc Med Bras (1992). 2024;70(6):e20231020.

PMID: 39045947. PMCID: PMC11288276. https://doi.org/10.1590/1806-9282.20231020

39. Hasan HA, AbuOdeh RO, Muda WAMBW, Mohamed HJBJ, Samsudin AR. Association of vitamin D receptor gene polymorphisms with metabolic syndrome and its components among adult Arabs from the United Arab Emirates. Diabetes Metab Syndr. 2017;11 Suppl 2:S531–S537.

PMID: 28392355. https://doi.org/10.1016/j.dsx.2017.03.047

40. Корой П.В., Ягода А.В., Дудов ТР. Значение матриксных металлопротеиназ и их ингибиторов в прогнозировании фиброза F4 (цирроза) при хронических заболеваниях печени. Терапия. 2025;11(1):108–115. (Koroy PV, Yagoda AV, Dudov TR. The importance of matrix metallo-proteinases and their inhibitors in predicting f4 fibrosis (cirrhosis) in case of chronic hepatic disorders. Terapiya = Therapy. 2025;11(1):108–115 (In Russ.)).

EDN: NLRQKC. https://dx.doi.org/10.18565/therapy.2025.1.108-115

41. Ягода А.В., Корой П.В., Дудов Т.Р. Матриксные металлопротеиназы и морфологическая картина при хронических заболеваниях печени. Экспериментальная и клиническая гастроэнтерология. 2023;(10):153–159. (Yagoda AV, Koroy PV, Dudov TR. Matrix metalloproteinases and morphological features in chronic liver diseases. Eksperimental’naya i klinicheskaya gastroenterologiya = Experimental and Clinical Gastroenterology. 2023;(10):153–159 (In Russ.)).

EDN: YACTWG. https://doi.org/10.31146/1682-8658-ecg-218-10-153-159