PNPLA3 and SAMM50 variants are associated with lean nonalcoholic fatty liver disease in Asian population

Introduction and Objectives: Lean adults with nonalcoholic fatty liver disease (NAFLD) have a higher risk of metabolic syndrome than lean controls. The study aimed to investigate the clinical and genetic features of lean NAFLD which remain unclear in Asian populations. Materials and Methods: This wa...

Full description

Saved in:
Bibliographic Details
Main Authors: Chia-Wen Lu, Tzu-Jung Chou, Tsan-Yu Wu, Yi-Hsuan Lee, Hung-Jen Yang, Kuo-Chin Huang
Format: Article
Language:English
Published: Elsevier 2025-01-01
Series:Annals of Hepatology
Subjects:
Online Access:http://www.sciencedirect.com/science/article/pii/S1665268124005441
Tags: Add Tag
No Tags, Be the first to tag this record!
_version_ 1850236971321917440
author Chia-Wen Lu
Tzu-Jung Chou
Tsan-Yu Wu
Yi-Hsuan Lee
Hung-Jen Yang
Kuo-Chin Huang
author_facet Chia-Wen Lu
Tzu-Jung Chou
Tsan-Yu Wu
Yi-Hsuan Lee
Hung-Jen Yang
Kuo-Chin Huang
author_sort Chia-Wen Lu
collection DOAJ
description Introduction and Objectives: Lean adults with nonalcoholic fatty liver disease (NAFLD) have a higher risk of metabolic syndrome than lean controls. The study aimed to investigate the clinical and genetic features of lean NAFLD which remain unclear in Asian populations. Materials and Methods: This was a genetic cohort study conducted in the HAVO Health Exam Clinic in 2020–2021 in Taiwan. Adults with a body mass index less than 24 kg/m2 were enrolled. Fatty liver was defined by ultrasonography. The candidate gene approach was based on the library of the NHGRI-EBI website. After removing duplication and nonsignificant variants, rs738409 in the PNPLA3 gene and rs3761472 in the SAMM50 gene were chosen. Multiple logistic regression models and receiver operating characteristic (ROC) curves were used. Results: A total of 1652 lean controls and 602 lean NAFLD patients were enrolled. The average age was 43.8 ± 11.5 years. Lean NAFLD subjects were older and had a higher percentage of metabolic syndrome (case vs. control: 10.5 % vs. 1.5 %). The GG genotypes of PNPLA3 rs12483959 (OR: 3.06; 95% CI: 2.15–4.37) and SAMM50 rs3761472 (OR: 2.90; 95% CI: 2.04–4.14) had a higher risk of fatty liver after adjusting for BMI and metabolic syndrome. The areas under the ROC curve for PNPLA3 rs738409 and SAMM50 rs3761472 in the detection of lean NAFLD were 0.859 (95%CI: 0.841, 0.877) and 0.860 (95%CI: 0.843, 0.877), respectively. Conclusions: PNPLA3 rs738409 and SAMM50 rs3761472 gene polymorphisms are associated with a higher risk of fatty liver in lean individuals independent of BMI and metabolic syndrome in Asian populations.
format Article
id doaj-art-6053310d6dba4b2b919bfdd43abebc94
institution OA Journals
issn 1665-2681
language English
publishDate 2025-01-01
publisher Elsevier
record_format Article
series Annals of Hepatology
spelling doaj-art-6053310d6dba4b2b919bfdd43abebc942025-08-20T02:01:51ZengElsevierAnnals of Hepatology1665-26812025-01-0130110176110.1016/j.aohep.2024.101761PNPLA3 and SAMM50 variants are associated with lean nonalcoholic fatty liver disease in Asian populationChia-Wen Lu0Tzu-Jung Chou1Tsan-Yu Wu2Yi-Hsuan Lee3Hung-Jen Yang4Kuo-Chin Huang5Graduate Institute of Clinical Medicine, College of Medicine, National Taiwan University, Taipei, Taiwan; Department of Family Medicine, National Taiwan University Hospital, Taipei, Taiwan; Department of Family Medicine, College of Medicine, National Taiwan University, Taipei, TaiwanGraduate Institute of Clinical Medicine, College of Medicine, National Taiwan University, Taipei, Taiwan; Department of Family Medicine, National Taiwan University Hospital, Taipei, Taiwan; Department of Family Medicine, National Taiwan University Hospital, Hsin-Chu Branch, Hsin-Chu, TaiwanDepartment of Family Medicine, National Taiwan University Hospital, Taipei, TaiwanGraduate Institute of Clinical Medicine, College of Medicine, National Taiwan University, Taipei, Taiwan; Department of Family Medicine, College of Medicine, National Taiwan University, Taipei, TaiwanMin-Sheng General Hospital, Taoyuan, Taiwan; Share Hope Medicine Co., Ltd., Taoyuan, TaiwanDepartment of Family Medicine, National Taiwan University Hospital, Taipei, Taiwan; Department of Family Medicine, College of Medicine, National Taiwan University, Taipei, Taiwan; Department of Family Medicine, National Taiwan University Hospital, Hsin-Chu Branch, Hsin-Chu, Taiwan; Corresponding author.Introduction and Objectives: Lean adults with nonalcoholic fatty liver disease (NAFLD) have a higher risk of metabolic syndrome than lean controls. The study aimed to investigate the clinical and genetic features of lean NAFLD which remain unclear in Asian populations. Materials and Methods: This was a genetic cohort study conducted in the HAVO Health Exam Clinic in 2020–2021 in Taiwan. Adults with a body mass index less than 24 kg/m2 were enrolled. Fatty liver was defined by ultrasonography. The candidate gene approach was based on the library of the NHGRI-EBI website. After removing duplication and nonsignificant variants, rs738409 in the PNPLA3 gene and rs3761472 in the SAMM50 gene were chosen. Multiple logistic regression models and receiver operating characteristic (ROC) curves were used. Results: A total of 1652 lean controls and 602 lean NAFLD patients were enrolled. The average age was 43.8 ± 11.5 years. Lean NAFLD subjects were older and had a higher percentage of metabolic syndrome (case vs. control: 10.5 % vs. 1.5 %). The GG genotypes of PNPLA3 rs12483959 (OR: 3.06; 95% CI: 2.15–4.37) and SAMM50 rs3761472 (OR: 2.90; 95% CI: 2.04–4.14) had a higher risk of fatty liver after adjusting for BMI and metabolic syndrome. The areas under the ROC curve for PNPLA3 rs738409 and SAMM50 rs3761472 in the detection of lean NAFLD were 0.859 (95%CI: 0.841, 0.877) and 0.860 (95%CI: 0.843, 0.877), respectively. Conclusions: PNPLA3 rs738409 and SAMM50 rs3761472 gene polymorphisms are associated with a higher risk of fatty liver in lean individuals independent of BMI and metabolic syndrome in Asian populations.http://www.sciencedirect.com/science/article/pii/S1665268124005441Lean NAFLDSNPsPNPLA3SAMM50HAVO database
spellingShingle Chia-Wen Lu
Tzu-Jung Chou
Tsan-Yu Wu
Yi-Hsuan Lee
Hung-Jen Yang
Kuo-Chin Huang
PNPLA3 and SAMM50 variants are associated with lean nonalcoholic fatty liver disease in Asian population
Annals of Hepatology
Lean NAFLD
SNPs
PNPLA3
SAMM50
HAVO database
title PNPLA3 and SAMM50 variants are associated with lean nonalcoholic fatty liver disease in Asian population
title_full PNPLA3 and SAMM50 variants are associated with lean nonalcoholic fatty liver disease in Asian population
title_fullStr PNPLA3 and SAMM50 variants are associated with lean nonalcoholic fatty liver disease in Asian population
title_full_unstemmed PNPLA3 and SAMM50 variants are associated with lean nonalcoholic fatty liver disease in Asian population
title_short PNPLA3 and SAMM50 variants are associated with lean nonalcoholic fatty liver disease in Asian population
title_sort pnpla3 and samm50 variants are associated with lean nonalcoholic fatty liver disease in asian population
topic Lean NAFLD
SNPs
PNPLA3
SAMM50
HAVO database
url http://www.sciencedirect.com/science/article/pii/S1665268124005441
work_keys_str_mv AT chiawenlu pnpla3andsamm50variantsareassociatedwithleannonalcoholicfattyliverdiseaseinasianpopulation
AT tzujungchou pnpla3andsamm50variantsareassociatedwithleannonalcoholicfattyliverdiseaseinasianpopulation
AT tsanyuwu pnpla3andsamm50variantsareassociatedwithleannonalcoholicfattyliverdiseaseinasianpopulation
AT yihsuanlee pnpla3andsamm50variantsareassociatedwithleannonalcoholicfattyliverdiseaseinasianpopulation
AT hungjenyang pnpla3andsamm50variantsareassociatedwithleannonalcoholicfattyliverdiseaseinasianpopulation
AT kuochinhuang pnpla3andsamm50variantsareassociatedwithleannonalcoholicfattyliverdiseaseinasianpopulation