Apolipoprotein A-V (apo A-V) exerts a potent triglyceride (TG)-lowering effect through enhanced intravascular TG-hydrolysis with increased uptake of TG-derived free fatty acids into muscle and adipose tissue. Genetic variants in the APOA5 gene were strongly associated with plasma TG concentrations. The aim of this study was to examine whether APOA5 genetic variation was associated with obesity. We genotyped the missense c.553 G>T polymorphism (p.G185C) in the APOA5 gene in 1,085 Chinese (333 obese subjects and 752 nonobese controls). We analyzed the association between the c.553 G>T polymorphism and obesity and related metabolic phenotypes. The T allele at the c.553 G>T polymorphism was associated with higher plasma TG concentrations. Each additional T allele was associated with an increased TG concentration of 53.5 mg/dl (95% confidence interval (CI) 29.6-76.0, P < 0.0001). However, the T allele was associated lower risk of obesity (odds ratio (OR), 0.48; 95% CI 0.32-0.73, P = 0.0004). Each additional copy of the T allele was associated with a BMI decrease of 0.73 kg/m(2) (95% CI 0.26-1.16, P = 0.002), equivalent to 2.11 kg in a person 1.7 m tall. We may then conclude that the TG-raising APOA5 genetic variant was associated with a decrease in BMI and reduced risk of obesity in the Chinese population.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1038/oby.2010.10 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Differential effects of volanesorsen on apoC-III, triglycerides and pancreatitis in familial chylomicronemia syndrome diagnosed by genetic or non-genetic criteria.
J Clin Lipidol
December 2024
Western University, London, ON, Canada.
Background: Familial chylomicronemia syndrome (FCS) is diagnosed by genetic or non-genetic criteria.
Objective: To assess responses to treatment of apolipoprotein (apo)C-III, triglycerides, and pancreatitis events in patients with FCS-based diagnostic methods.
Methods: APPROACH enrolled 66 patients with FCS randomized to volanesorsen or placebo for 12 months.
Genetic basis of hypertriglyceridemia.
Clin Investig Arterioscler
December 2024
Unidad de Lípidos y Riesgo Cardiovascular, Servicio de Medicina Interna, Complejo Hospitalario Universitario de A Coruña, A Coruña, España. Electronic address:
The development of massive sequencing techniques and guidelines for assessing the pathogenicity of variants are allowing us the identification of new cases of familial chylomicronemia syndrome (FCS) mostly in the LPL gene, less frequently in GPIHBP1 and APOA5, and with even fewer cases in LMF1 and APOC2. From the included studies, it can be deduced that, in cases with multifactorial chylomicronemia syndrome (MCS), both loss-of-function variants and common variants in canonical genes for FCH contribute to the manifestation of this other form of chylomicronemia. Other common and rare variants in other triglyceride metabolism genes have been identified in MCS patients, although their real impact on the development of severe hypertriglyceridemia is unknown.
View Article and Find Full Text PDFGenetic Variants in Severe Hypertriglyceridemia Among Taiwanese Participants - Insights From Genome-Wide Association and Whole-Exome Sequencing Analyses.
Circ J
December 2024
Institute of Epidemiology and Preventive Medicine, National Taiwan University.
Article Synopsis
- A study explored whole-exome sequencing (WES) to better understand severe hypertriglyceridemia by identifying genes linked to high triglyceride levels through a genome-wide association study (GWAS).
- The GWAS involved over 120,000 participants and found that the APOA5 locus on chromosome 11 has the strongest association with triglyceride levels, alongside other significant genes like BUD13, GCKR, and LPL.
- WES conducted on 29 patients with extreme hypertriglyceridemia identified additional genes such as ALDH1A2 and APOC1, highlighting both known and novel genetic factors that may influence lipid metabolism and open up possibilities for new treatments.
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).
Hypometric genetics: Improved power in genetic discovery by incorporating quality control flags.
Am J Hum Genet
November 2024
Computer Science and Artificial Intelligence Laboratory, Massachusetts Institute of Technology, Cambridge, MA, USA; Broad Institute of MIT and Harvard, Cambridge, MA, USA. Electronic address:
Article Synopsis
- * The study introduces "hypometric genetics" (hMG) analysis, revealing a significant genetic basis for BLQ flags, which represent an additional genetic signal useful for discovering associations related to extreme phenotypes.
- * Analysis of data from 227,469 UK Biobank individuals shows over 5% heritability for BLQ flags, with strong associations found at key genetic loci, demonstrating the effectiveness of combining BLQ flags with quantitative measurements to enhance genetic research insights.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!