Gene sequence variants PPARGC1Ars8192678, PPARG2rs1801282, FTORS9939609, LEPRS7799039 and LEPRRS1137101 in non-alcoholic fatty liver disease
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 M...
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| Format: | Article |
| Language: | English |
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Saratov State Medical University
2023-06-01
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| Series: | Saratov Medical Journal |
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| Online Access: | https://sarmj.org/sites/default/files/pdf/2024/Saratov_Med_J-2023-0301.pdf |
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| author | Pankova, Ekaterina D. Chulkov, Vasiliy S. Gavrilova, Elena S. Zotova, Maria A. Sumerkina, Veronika A. Zhmaylova, Svetlana V. Okonenko, Tatiana I. |
| author_facet | Pankova, Ekaterina D. Chulkov, Vasiliy S. Gavrilova, Elena S. Zotova, Maria A. Sumerkina, Veronika A. Zhmaylova, Svetlana V. Okonenko, Tatiana I. |
| author_sort | Pankova, Ekaterina D. |
| collection | DOAJ |
| description | 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 |
| first_indexed | 2024-04-24T15:23:23Z |
| format | Article |
| id | doaj.art-55e8c2f778b14dfc81c277d0cb60d24c |
| institution | Directory Open Access Journal |
| issn | 2712-8253 |
| language | English |
| last_indexed | 2024-04-24T15:23:23Z |
| publishDate | 2023-06-01 |
| publisher | Saratov State Medical University |
| record_format | Article |
| series | Saratov Medical Journal |
| spelling | doaj.art-55e8c2f778b14dfc81c277d0cb60d24c2024-04-02T07:06:46ZengSaratov State Medical UniversitySaratov Medical Journal2712-82532023-06-01431510.15275/sarmj.2023.0301Gene sequence variants PPARGC1Ars8192678, PPARG2rs1801282, FTORS9939609, LEPRS7799039 and LEPRRS1137101 in non-alcoholic fatty liver diseasePankova, Ekaterina D. 0Chulkov, Vasiliy S. 1Gavrilova, Elena S. 2Zotova, Maria A. 3Sumerkina, Veronika A. 4Zhmaylova, Svetlana V. 5Okonenko, Tatiana I. 6SouthUral State Medical University, Chelyabinsk, RussiaInstitute of Medical Education, Yaroslav the Wise Novgorod State Medical University, Veliky Novgorod, RussiaSouthUral State Medical University, Chelyabinsk, RussiaSouthUral State Medical University, Chelyabinsk, RussiaSouthUral State Medical University, Chelyabinsk, RussiaInstitute of Medical Education, Yaroslav the Wise Novgorod State Medical University, Veliky Novgorod, Russia Institute of Medical Education, Yaroslav the Wise Novgorod State Medical University, Veliky Novgorod, RussiaObjective: 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 occurrencehttps://sarmj.org/sites/default/files/pdf/2024/Saratov_Med_J-2023-0301.pdfnon-alcoholic fatty liver diseasers8192678rs1801282rs9939609rs7799039 |
| spellingShingle | Pankova, Ekaterina D. Chulkov, Vasiliy S. Gavrilova, Elena S. Zotova, Maria A. Sumerkina, Veronika A. Zhmaylova, Svetlana V. Okonenko, Tatiana I. Gene sequence variants PPARGC1Ars8192678, PPARG2rs1801282, FTORS9939609, LEPRS7799039 and LEPRRS1137101 in non-alcoholic fatty liver disease Saratov Medical Journal non-alcoholic fatty liver disease rs8192678 rs1801282 rs9939609 rs7799039 |
| title | Gene sequence variants PPARGC1Ars8192678, PPARG2rs1801282, FTORS9939609, LEPRS7799039 and LEPRRS1137101 in non-alcoholic fatty liver disease |
| title_full | Gene sequence variants PPARGC1Ars8192678, PPARG2rs1801282, FTORS9939609, LEPRS7799039 and LEPRRS1137101 in non-alcoholic fatty liver disease |
| title_fullStr | Gene sequence variants PPARGC1Ars8192678, PPARG2rs1801282, FTORS9939609, LEPRS7799039 and LEPRRS1137101 in non-alcoholic fatty liver disease |
| title_full_unstemmed | Gene sequence variants PPARGC1Ars8192678, PPARG2rs1801282, FTORS9939609, LEPRS7799039 and LEPRRS1137101 in non-alcoholic fatty liver disease |
| title_short | Gene sequence variants PPARGC1Ars8192678, PPARG2rs1801282, FTORS9939609, LEPRS7799039 and LEPRRS1137101 in non-alcoholic fatty liver disease |
| title_sort | gene sequence variants ppargc1ars8192678 pparg2rs1801282 ftors9939609 leprs7799039 and leprrs1137101 in non alcoholic fatty liver disease |
| topic | non-alcoholic fatty liver disease rs8192678 rs1801282 rs9939609 rs7799039 |
| url | https://sarmj.org/sites/default/files/pdf/2024/Saratov_Med_J-2023-0301.pdf |
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