98%
921
2 minutes
20
Aims: We examined the association of the G allele in the single-nucleotide polymorphism (SNP) rs738409 in the third exon of patatin-like phospholipase domain-containing 3 gene (PNPLA3) gene, with chronic kidney disease in diabetes endotypes.
Methods: Participants with recent-onset diabetes (n = 707) from the prospective German Diabetes Study (GDS) underwent cluster assignment, detailed phenotyping, genotyping and magnetic resonance spectroscopy to quantify hepatocellular lipid content (HCL).
Results: Severe insulin-resistant diabetes (SIRD) had the lowest glomerular filtration rates (eGFR) and highest HCL compared to severe insulin-deficient, moderate obesity-related, moderate age-related and severe autoimmune diabetes endotypes (all p < 0.05). HCL was negatively associated with eGFR (r = -0.287, p < 0.01) across all groups. Stratification by G-allele carrier status did not reveal any association between HCL and eGFR among the endotypes. However, the proportion of G-allele carriers increased from 44 % for eGFR >60 ml/min to 52 % for eGFR <60 ml/min (p < 0.05).
Conclusions: The PNPLA3 polymorphism may contribute to declining kidney function independently of liver lipids.
Download full-text PDF |
Source |
---|---|
http://dx.doi.org/10.1016/j.dsx.2024.103137 | DOI Listing |
Clin Exp Gastroenterol
August 2025
Biomedical Research Center, Pham Ngoc Thach University of Medicine, Ho Chi Minh City, Vietnam.
Background: Non-alcoholic fatty liver disease (NAFLD) is an increasing public health concern in Vietnam, particularly among working-age adults (18-60 years). The rs738409 variant (C>G) is a well-established risk factor for NAFLD globally; however, its impact on the Vietnamese population remains inadequately studied. This study investigates its association with NAFLD risk and its interaction with metabolic factors.
View Article and Find Full Text PDFInt J Endocrinol
August 2025
Department of Pharmacy, Children's Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Chongqing Key Laboratory of Pediatric Metabolism and Inflammatory Diseases, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqin
Patatin-like phospholipase domain-containing protein 3 (PNPLA3) plays a crucial role in metabolic dysfunction-related steatotic liver disease. ARO-PNPLA3 is a therapeutic agent designed to target PNPLA3, but its long-term effects remain uncertain. The objective of this study was to ascertain the impact of PNPLA3 inhibition on the risk of gout through Mendelian randomization.
View Article and Find Full Text PDFLiver Int
September 2025
In Vitro Liver Disease Modelling Team, Department of In Vitro Toxicology & Dermato-Cosmetology, Faculty of Medicine & Pharmacy, Vrije Universiteit Brussel, Brussels, Belgium.
Background And Aims: The role of the patatin-like phospholipase domain-containing protein 3 (PNPLA3)-I148M variant in drug-induced liver injury (DILI) remains unclear. This systematic review with meta-analysis investigated whether carriage of PNPLA3 I148M may contribute to the development of hepatocellular DILI.
Methods: Scientific databases were searched up to January 31st, 2025 for studies investigating serum transaminase elevations in response to drug treatment.
Cureus
July 2025
General Medicine, Shri B. M. Patil Medical College Hospital and Research Center, Bharatiya Lingayat Development Educational Association (BLDEA) (Deemed to be University), Vijayapura, IND.
Background: Alcoholic liver disease (ALD) is a significant cause of liver-related morbidity and mortality worldwide. The role of genetic factors, particularly the patatin-like phospholipase domain-containing 3 (PNPLA3) gene, in the progression of ALD remains underexplored in the Indian population. This study aims to investigate the molecular characterization of the PNPLA3 gene polymorphism in individuals with ALD in India.
View Article and Find Full Text PDFJ Lipid Res
August 2025
Institute of Molecular Biosciences, University of Graz, Graz, Austria; BioTechMed-Graz, Graz, Austria; Field of Excellence BioHealth, University of Graz, Graz, Austria. Electronic address:
ABHD5-syndromic epidermal differentiation disorder (ABHD5-sEDD; also known as Chanarin-Dorfman syndrome) is a rare autosomal recessive disorder caused by mutations in the α/β-hydrolase domain-containing 5 (ABHD5) gene, leading to systemic accumulation of neutral lipids and ichthyosis due to impaired activation of patatin-like phospholipase domain-containing (PNPLAs) proteins. While ABHD5 is a well-known co-activator of adipose triglyceride lipase (ATGL, also referred to as PNPLA2), its role in epidermal lipid metabolism is incompletely understood. Here, we identify ABHD5 as a key regulator of PNPLA1, an enzyme essential for ω-O-acylceramide (acylCer) synthesis and skin barrier formation.
View Article and Find Full Text PDF