Genetic variants associated with metabolic dysfunction-associated fatty liver diseases in a Korean population
Abstract Background Susceptibility to metabolic dysfunction-associated fatty liver diseases (MAFLD) shows a large inter-ethnic variability. Currently, large-scale genome-wide association studies (GWAS) on MAFLD in a Korean population are limited. This study aimed to investigate genes underlying MAFL...
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BMC
2025-04-01
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| Series: | European Journal of Medical Research |
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| Online Access: | https://doi.org/10.1186/s40001-025-02576-6 |
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| author | Jong-Ho Park Kyoung-Jin Park |
| author_facet | Jong-Ho Park Kyoung-Jin Park |
| author_sort | Jong-Ho Park |
| collection | DOAJ |
| description | Abstract Background Susceptibility to metabolic dysfunction-associated fatty liver diseases (MAFLD) shows a large inter-ethnic variability. Currently, large-scale genome-wide association studies (GWAS) on MAFLD in a Korean population are limited. This study aimed to investigate genes underlying MAFLD in a Korean population. Methods A total of 13,457 Korean adults (4061 cases and 9396 controls) who underwent abdominal ultrasonography, biochemical testing, and genetic studies at a comprehensive health promotion center from 2019 to 2023 were included. Genome-wide genotyping was conducted using Infinium Asian Screening Array and an iSCAN system (Illumina, San Diego, CA, USA). Gene-based approach was conducted with Multi-Marker Analysis for Genomic Annotation (MAGMA) and Functional Mapping and Annotation (FUMA). Expression quantitative trait loci (eQTLs) mapping was done using GTEx v8 data. Results The 22q13.3, 19p13.11, and 2p23.3 loci were associated with MAFLD after adjusting for age, sex, and body mass index (p < 5 × 10–8). Of these, 154 (89%) variants were identified as eQTLs (FDR < 0.05). Gene-based approach showed that PNPLA3, SAMM50, and PARVB were significantly associated with MAFLD (Bonferroni-corrected p < 2.99 × 10−6), followed by PDLIM4, GCKR, APOB, GPAM, HMGA1, C5orf56, and APOC1. Conclusions This is the largest-scale GWAS of MAFLD in a Korean adult population. Genotyping PARVB as well as PNPLA3 might help us identify individuals with the highest risk of MAFLD in Korean adults. These findings would contribute to our understanding of genetic pathogenesis of MAFLD in the Korean population. |
| format | Article |
| id | doaj-art-d200b82aac45440a8e170a0091c583ec |
| institution | DOAJ |
| issn | 2047-783X |
| language | English |
| publishDate | 2025-04-01 |
| publisher | BMC |
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| series | European Journal of Medical Research |
| spelling | doaj-art-d200b82aac45440a8e170a0091c583ec2025-08-20T03:14:09ZengBMCEuropean Journal of Medical Research2047-783X2025-04-0130111010.1186/s40001-025-02576-6Genetic variants associated with metabolic dysfunction-associated fatty liver diseases in a Korean populationJong-Ho Park0Kyoung-Jin Park1Precision Medicine Center, Seoul National University Bundang HospitalDepartment of Laboratory Medicine & Genetics, Samsung Changwon Hospital, Sungkyunkwan University School of MedicineAbstract Background Susceptibility to metabolic dysfunction-associated fatty liver diseases (MAFLD) shows a large inter-ethnic variability. Currently, large-scale genome-wide association studies (GWAS) on MAFLD in a Korean population are limited. This study aimed to investigate genes underlying MAFLD in a Korean population. Methods A total of 13,457 Korean adults (4061 cases and 9396 controls) who underwent abdominal ultrasonography, biochemical testing, and genetic studies at a comprehensive health promotion center from 2019 to 2023 were included. Genome-wide genotyping was conducted using Infinium Asian Screening Array and an iSCAN system (Illumina, San Diego, CA, USA). Gene-based approach was conducted with Multi-Marker Analysis for Genomic Annotation (MAGMA) and Functional Mapping and Annotation (FUMA). Expression quantitative trait loci (eQTLs) mapping was done using GTEx v8 data. Results The 22q13.3, 19p13.11, and 2p23.3 loci were associated with MAFLD after adjusting for age, sex, and body mass index (p < 5 × 10–8). Of these, 154 (89%) variants were identified as eQTLs (FDR < 0.05). Gene-based approach showed that PNPLA3, SAMM50, and PARVB were significantly associated with MAFLD (Bonferroni-corrected p < 2.99 × 10−6), followed by PDLIM4, GCKR, APOB, GPAM, HMGA1, C5orf56, and APOC1. Conclusions This is the largest-scale GWAS of MAFLD in a Korean adult population. Genotyping PARVB as well as PNPLA3 might help us identify individuals with the highest risk of MAFLD in Korean adults. These findings would contribute to our understanding of genetic pathogenesis of MAFLD in the Korean population.https://doi.org/10.1186/s40001-025-02576-6Metabolic dysfunction-associated fatty liver disease (MAFLD)Genome-wide association studies (GWAS)Genetic variantsPNPLA3SAMM50PARVB |
| spellingShingle | Jong-Ho Park Kyoung-Jin Park Genetic variants associated with metabolic dysfunction-associated fatty liver diseases in a Korean population European Journal of Medical Research Metabolic dysfunction-associated fatty liver disease (MAFLD) Genome-wide association studies (GWAS) Genetic variants PNPLA3 SAMM50 PARVB |
| title | Genetic variants associated with metabolic dysfunction-associated fatty liver diseases in a Korean population |
| title_full | Genetic variants associated with metabolic dysfunction-associated fatty liver diseases in a Korean population |
| title_fullStr | Genetic variants associated with metabolic dysfunction-associated fatty liver diseases in a Korean population |
| title_full_unstemmed | Genetic variants associated with metabolic dysfunction-associated fatty liver diseases in a Korean population |
| title_short | Genetic variants associated with metabolic dysfunction-associated fatty liver diseases in a Korean population |
| title_sort | genetic variants associated with metabolic dysfunction associated fatty liver diseases in a korean population |
| topic | Metabolic dysfunction-associated fatty liver disease (MAFLD) Genome-wide association studies (GWAS) Genetic variants PNPLA3 SAMM50 PARVB |
| url | https://doi.org/10.1186/s40001-025-02576-6 |
| work_keys_str_mv | AT jonghopark geneticvariantsassociatedwithmetabolicdysfunctionassociatedfattyliverdiseasesinakoreanpopulation AT kyoungjinpark geneticvariantsassociatedwithmetabolicdysfunctionassociatedfattyliverdiseasesinakoreanpopulation |