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

Year - Volume - Issue
Ekaterina D. Pankova, Vasiliy S. Chulkov, Elena S. Gavrilova, Maria A. Zotova, Veronika A. Sumerkina, Svetlana V. Zhmaylova, Tatiana I. Okonenko
Article type
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.
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About the Authors

Ekaterina D. Pankova – PhD, Student at the Department of Faculty Therapy, South Ural State Medical University, Chelyabinsk, Russia,; 

Vasiliy S. Chulkov –DSc, Professor, Department of Internal Diseases, Director, Institute of Medical Education, Yaroslav the Wise Novgorod State Medical University, Veliky Novgorod, Russia,;

Elena S. Gavrilova – PhD, Assistant Professor, Department of Polyclinic Therapy and Clinical Pharmacology, South Ural State Medical University, Chelyabinsk, Russia,;

Maria A. Zotova – PhD, Senior Researcher,Research Institute of Immunology, South Ural State Medical University, Chelyabinsk, Russia,; 

Veronika A. Sumerkina – PhD, Lead Researcher, Head of the Division of Biochemistry, Central Research Laboratory, South Ural State Medical University, Chelyabinsk, Russia,; 

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,; 

Tatiana I. Okonenko – DSc, Associate Professor, Chair of the Department of General Pathology, Yaroslav the Wise Novgorod State Medical University, Veliky Novgorod, Russia,


Received 17 August, 20231, Accepted 11 September 2023