Genetic and metabolic aspects of non-alcoholic fatty liver disease (NAFLD) pathogenicity
Abstract Background Non-alcoholic fatty liver disease (NAFLD) is the most common chronic liver disease showing a rising prevalence globally. Genetic predisposition plays a key role in the development and progression of the disease pathogenicity. Main body This paper summarizes genetic associations b...
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| Format: | Article |
| Language: | English |
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SpringerOpen
2023-08-01
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| Series: | Egyptian Journal of Medical Human Genetics |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s43042-023-00433-x |
| _version_ | 1797452470243295232 |
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| author | Saumya Madushani Samarasinghe Asanka Sudeshini Hewage Rohan Chaminda Siriwardana Kamani Hemamala Tennekoon Madunil Anuk Niriella Sumadee De Silva |
| author_facet | Saumya Madushani Samarasinghe Asanka Sudeshini Hewage Rohan Chaminda Siriwardana Kamani Hemamala Tennekoon Madunil Anuk Niriella Sumadee De Silva |
| author_sort | Saumya Madushani Samarasinghe |
| collection | DOAJ |
| description | Abstract Background Non-alcoholic fatty liver disease (NAFLD) is the most common chronic liver disease showing a rising prevalence globally. Genetic predisposition plays a key role in the development and progression of the disease pathogenicity. Main body This paper summarizes genetic associations based on their influence on several metabolic aspects such as lipid metabolism, glucose metabolism, hepatic iron accumulation and cholesterol metabolism toward the NAFLD pathogenicity. Furthermore, we present variations in some epigenetic characters and the microRNA profile with regard to NAFLD. Conclusion As reported in many studies, the PNPLA3 rs738409 variant seems to be significantly associated with NAFLD susceptibility. Other gene variants like TM6SF2 rs58542926, MBOAT7 rs641738 and GCKR variants also appear to be more prevalent among NAFLD patients. We believe these genetic variants may provide insights into new trends in developing noninvasive biomarkers and identify their suitability in clinical practice in the future. Graphical abstract |
| first_indexed | 2024-03-09T15:08:12Z |
| format | Article |
| id | doaj.art-be3e9ada715d47d9a7ec78ae9adc0c5f |
| institution | Directory Open Access Journal |
| issn | 2090-2441 |
| language | English |
| last_indexed | 2024-03-09T15:08:12Z |
| publishDate | 2023-08-01 |
| publisher | SpringerOpen |
| record_format | Article |
| series | Egyptian Journal of Medical Human Genetics |
| spelling | doaj.art-be3e9ada715d47d9a7ec78ae9adc0c5f2023-11-26T13:31:58ZengSpringerOpenEgyptian Journal of Medical Human Genetics2090-24412023-08-0124111410.1186/s43042-023-00433-xGenetic and metabolic aspects of non-alcoholic fatty liver disease (NAFLD) pathogenicitySaumya Madushani Samarasinghe0Asanka Sudeshini Hewage1Rohan Chaminda Siriwardana2Kamani Hemamala Tennekoon3Madunil Anuk Niriella4Sumadee De Silva5Institute of Biochemistry, Molecular Biology and Biotechnology, University of ColomboInstitute of Biochemistry, Molecular Biology and Biotechnology, University of ColomboDepartment of Surgery, Faculty of Medicine, University of KelaniyaInstitute of Biochemistry, Molecular Biology and Biotechnology, University of ColomboDepartment of Medicine, Faculty of Medicine, University of KelaniyaInstitute of Biochemistry, Molecular Biology and Biotechnology, University of ColomboAbstract Background Non-alcoholic fatty liver disease (NAFLD) is the most common chronic liver disease showing a rising prevalence globally. Genetic predisposition plays a key role in the development and progression of the disease pathogenicity. Main body This paper summarizes genetic associations based on their influence on several metabolic aspects such as lipid metabolism, glucose metabolism, hepatic iron accumulation and cholesterol metabolism toward the NAFLD pathogenicity. Furthermore, we present variations in some epigenetic characters and the microRNA profile with regard to NAFLD. Conclusion As reported in many studies, the PNPLA3 rs738409 variant seems to be significantly associated with NAFLD susceptibility. Other gene variants like TM6SF2 rs58542926, MBOAT7 rs641738 and GCKR variants also appear to be more prevalent among NAFLD patients. We believe these genetic variants may provide insights into new trends in developing noninvasive biomarkers and identify their suitability in clinical practice in the future. Graphical abstracthttps://doi.org/10.1186/s43042-023-00433-xNon-alcoholic fatty liver diseaseSingle nucleotide polymorphismsPNPLA3TM6SF2MBOAT7GCKR |
| spellingShingle | Saumya Madushani Samarasinghe Asanka Sudeshini Hewage Rohan Chaminda Siriwardana Kamani Hemamala Tennekoon Madunil Anuk Niriella Sumadee De Silva Genetic and metabolic aspects of non-alcoholic fatty liver disease (NAFLD) pathogenicity Egyptian Journal of Medical Human Genetics Non-alcoholic fatty liver disease Single nucleotide polymorphisms PNPLA3 TM6SF2 MBOAT7 GCKR |
| title | Genetic and metabolic aspects of non-alcoholic fatty liver disease (NAFLD) pathogenicity |
| title_full | Genetic and metabolic aspects of non-alcoholic fatty liver disease (NAFLD) pathogenicity |
| title_fullStr | Genetic and metabolic aspects of non-alcoholic fatty liver disease (NAFLD) pathogenicity |
| title_full_unstemmed | Genetic and metabolic aspects of non-alcoholic fatty liver disease (NAFLD) pathogenicity |
| title_short | Genetic and metabolic aspects of non-alcoholic fatty liver disease (NAFLD) pathogenicity |
| title_sort | genetic and metabolic aspects of non alcoholic fatty liver disease nafld pathogenicity |
| topic | Non-alcoholic fatty liver disease Single nucleotide polymorphisms PNPLA3 TM6SF2 MBOAT7 GCKR |
| url | https://doi.org/10.1186/s43042-023-00433-x |
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