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Identification and functional analysis of novel homozygous LMF1 variants in severe hypertriglyceridemia.
J Clin Lipidol
October 2024
Department of Biomedical Sciences, Western University of Health Sciences, Pomona, CA, USA. Electronic address:
Background: The genetic basis of hypertriglyceridemia (HTG) is complex and includes variants in Lipase Maturation Factor 1 (LMF1), an endoplasmic reticulum (ER)-chaperone involved in the post-translational activation of lipoprotein lipase (LPL).
Objective: The objective of this study was to identify and functionally characterize biallelic LMF1 variants in patients with HTG.
Methods: Genomic DNA sequencing was used to identify biallelic LMF1 variants in HTG patients without deleterious variants in LPL, apolipoprotein C-II (APOC2), glycosylphosphatidylinositol-anchored high-density lipoprotein binding protein 1 (GPIHBP1) or apolipoprotein A-V (APOA5).
Genome-wide association study for metabolic syndrome reveals APOA5 single nucleotide polymorphisms with multilayered effects in Koreans.
Lipids Health Dis
August 2024
Genomic Medicine Institute, Medical Research Center, Seoul National University, Seoul, 03080, Republic of Korea.
Article Synopsis
- - The study aims to investigate the interaction between two significant SNPs related to metabolic syndrome (MetS) in an East Asian cohort, addressing the lack of representation in previous GWAS that mainly focused on non-Asian populations.
- - The analysis of data from 58,600 individuals revealed that the SNPs rs651821 and rs2266788 interact independently, showing opposing effects on MetS and related traits like triglycerides and HDL levels.
- - The findings highlight the complex relationship between these genetic variants and lifestyle factors, indicating a need for a more nuanced approach in future GWAS for metabolic syndrome.
Genetic Polymorphisms and Genetic Risk Scores Contribute to the Risk of Coronary Artery Disease (CAD) in a North Indian Population.
Int J Mol Sci
August 2024
Department of Human Genetics, Punjabi University, Patiala 147002, India.
Article Synopsis
- - Coronary artery disease (CAD) is a major health issue in India, and this study looked at ten genetic polymorphisms affecting oxidative stress, blood pressure, and lipid metabolism in the Jat Sikh population to understand their link to CAD risk.
- - The research found that seven of these polymorphisms, specifically M235T, T174M, and A1166C, showed significant associations with increased CAD risk, with some haplotypes linked to higher risk even when accounting for other factors.
- - A higher polygenic risk score indicated a nearly double risk of developing CAD, highlighting important genetic factors for potential clinical and public health strategies in preventing and managing coronary artery disease.
Sex hormones differently regulate lipid metabolism genes in primary human hepatocytes.
BMC Endocr Disord
August 2024
Department of Hepatobiliary Surgery and Visceral Transplantation, Clinic for Visceral, Transplant, Thoracic and Vascular Surgery, Leipzig University Medical Center, 04103, Leipzig, Germany.
Background: Prevalence of metabolic dysfunction-associated steatotic liver disease (MASLD) is higher in men than in women. Hormonal and genetic causes may account for the sex differences in MASLD. Current human in vitro liver models do not sufficiently take the influence of biological sex and sex hormones into consideration.
View Article and Find Full Text PDFA Man with Primary Hyperchylomicronemia with Triglyceride Levels Exceeding 11,000 mg/dL was Well Controlled by Pemafibrate Combined with Dietary Therapy: A Case Report.
Intern Med
July 2024
Department of Endocrinology and Metabolism, Sumitomo Hospital, Japan.
A 50-year-old man with a triglyceride (TG) level of 11,397 mg/dL was admitted to our hospital. He consumed a high-fat and high-carbohydrate diet as well as more than 100 g of alcohol per day. He had type 2 diabetes and obesity and had previously suffered from severe acute pancreatitis twice.
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