Gene sequence variants PPARGC1Ars8192678, PPARG2rs1801282, FTORS9939609, LEPRS7799039 and LEPRRS1137101 in non-alcoholic fatty liver disease

Year - Volume - Issue
Authors
Ekaterina D. Pankova, Vasiliy S. Chulkov, Elena S. Gavrilova, Maria A. Zotova, Veronika A. Sumerkina, Svetlana V. Zhmaylova, Tatiana I. Okonenko
Article type
Abstract
Objective: assessing the association of sequence variants rs8192678, rs1801282, rs9939609, rs7799039 and rs1137101in PPARGC1A, PPARG2, FTO, LEP and LEPR genes, respectively,with non-alcoholic fatty liver disease (NAFLD) inyounger adults (18-44 years old) of the Russian Federation.
Materials and Methods. Our case-control study encompassed 100 patients distributed between two groups: Group 1 (cases) with patients suffering from NAFLD (n=50) andGroup 2 (controls) with individuals without it (n=50). All subjects underwent a conventional sonography of their liver and shear wave elastography (Aixplorer®, France): both ultrasound examinations assessed the severity of liver steatosis and fibrosis.
Results. We discovered two sequence variants associated with an increased risk of NAFLD in women: rs9939609 and rs7799039: A/A rs9939609 genotype (OR 5.33, 95% CI 1.14-24.90,p=0.041) and G/G rs7799039genotype (OR 7.5, 95% CI 1.04-54.12,p=0.026).
Conclusion.The A/A genotype of the rs9939609 gene in younger women of the Russian population yielded the fivefold increase in the likelihood of NAFLD, whereas the G/G genotype of the rs7799039 gene resulted in a 7.5-fold likelihood ofNAFLD occurrence.
Cite as
Pankova ED, Chulkov VS, Gavrilova ES, Zotova MA, Sumerkina VA, Zhmailova SV, Okonenko TI. Gene sequence variants PPARGC1A rs8192678,PPARG2rs1801282, FTO rs9939609, LEP rs7799039 andLEPR rs1137101in non-alcoholic fatty liver disease. Saratov Medical Journal 2023; 4 (3): e0301. https://doi.org/10.15275/sarmj.2023.0301
CID
e0301
References
  1. Lazebnik LB, Golovanova EV, Turkina SV, et al. Non-alcoholic fatty liver disease in adults: Theclinical picture, diagnosis and treatment. Recommendations for internal medicine physicians.3rd version. Experimental and Clinical Gastroenterology 2021; 185 (1): 4-52. [In Russ]. https://doi.org/10.31146/1682-8658-ecg-185-1-4-52

  2. Chulkov VS, Sumerkina VA, Abramovskikh OS, et al. The incidence of non-alcoholic fatty liver disease in young patients with abdominal obesity against the background of arterial hypertension. Experimental and Clinical Gastroenterology 2014; 11 (111): 42-5. [In Russ.]

  3.  Bains V, Kaur H, Badaruddoza B. Association analysis of polymorphisms in LEP (rs7799039 and rs2167270) and LEPR (rs1137101) gene towards the development of type 2 diabetes in North Indian Punjabi population. Gene 2020; (754): 144846. htps://doi.org/10.1016/j.gene.2020.144846 

  4. Vázquez-Del Mercado M, Guzmán-Ornelas MO, Corona Meraz FI, et al. The 482Ser of PPARGC1A and 12Pro of PPARG2 alleles are associated with reduction of metabolic risk factors even obesity in a Mexican-Mestizo population. Biomed Res Int. 2015; (2015): 285491. https://doi.org/ 10.1155/2015/285491  

  5. Villegas R, Williams SM, Gao YT, et al. Genetic variation in the peroxisome proliferator-activated receptor (PPAR) and peroxisome proliferator-activated receptor gamma co-activator 1 (PGC1) gene families and type 2 diabetes. Ann Hum Genet. 2014; 78(1): 23-32. https://doi.org/10.1111/ahg.12044 

  6. Solé X, Guinó E, Valls J, et al. SNPStats: A web tool for the analysis of association studies. Bioinformatics 2006; 22(15): 1928-9. https://doi.org/10.1093/bioinformatics/btl268

  7. Yoneda M, Hotta K, Nozaki Y, et al. Association between PPARGC1A polymorphisms and the occurrence of nonalcoholic fatty liver disease (NAFLD). BMC Gastroenterol. 2008; (8): 27. https://doi.org/10.1186/1471-230X-8-27

  8. Gu Z, Bi Y, Yuan F, et al. FTOpolymorphisms are associated with metabolic dysfunction-associated fatty liver disease (MAFLD) susceptibility in the older ChineseHan population. Clin Interv Aging. 2020; (15): 1333-41. https://doi.org/10.2147/CIA.S254740

  9. Zhou YJ, Li YY, Nie YQ, et al. Influence of polygenetic polymorphisms on the susceptibility to non-alcoholic fatty liver disease of Chinese people. Journal of Gastroenterology and Hepatology. 2010; 25(4): 772-7. https://doi.org/10.1111/j.1440-1746.2009.06144.x

  10. Dzhioeva ON, Angarsky RK, Shvartz EN, et al. Visceral obesity: Major risk factors and diagnostic aspects (review). Saratov Journal of Medical Scientific Research 2022; 18(2): 234-9. [In Russ.].

About the Authors

Ekaterina D. Pankova – PhD, Student at the Department of Faculty Therapy, South Ural State Medical University, Chelyabinsk, Russia, http://orcid.org/0000-0002-6301-7630; 

Vasiliy S. Chulkov –DSc, Professor, Department of Internal Diseases, Director, Institute of Medical Education, Yaroslav the Wise Novgorod State Medical University, Veliky Novgorod, Russia, http://orcid.org/0000-0002-0952-6856;

Elena S. Gavrilova – PhD, Assistant Professor, Department of Polyclinic Therapy and Clinical Pharmacology, South Ural State Medical University, Chelyabinsk, Russia, http://orcid.org/0000-0001-7137-6935;

Maria A. Zotova – PhD, Senior Researcher,Research Institute of Immunology, South Ural State Medical University, Chelyabinsk, Russia, http://orcid.org/0000-0002-2391-7765; 

Veronika A. Sumerkina – PhD, Lead Researcher, Head of the Division of Biochemistry, Central Research Laboratory, South Ural State Medical University, Chelyabinsk, Russia, http://orcid.org/0000-0003-4842-0875; 

Svetlana V. Zhmaylova – DSc, Associate Professor, Chair of the Department of Continuing Professional Education and Polyclinic Therapy, Yaroslav the Wise Novgorod State Medical University  Veliky Novgorod, Russia, http://orcid.org/0000-0002-7754-5338; 

Tatiana I. Okonenko – DSc, Associate Professor, Chair of the Department of General Pathology, Yaroslav the Wise Novgorod State Medical University, Veliky Novgorod, Russia,  http://orcid.org/0000-0002-7431-3777.

 

Received 17 August, 20231, Accepted 11 September 2023

DOI
10.15275/sarmj.2023.0301