APOA5
- Known as:
- APOA5
- Catalog number:
- Y214008
- Product Quantity:
- 200ul
- Category:
- -
- Supplier:
- ABM
- Gene target:
- APOA5
Related genes to: APOA5
- Gene:
- APOA5 NIH gene
- Name:
- apolipoprotein A5
- Previous symbol:
- -
- Synonyms:
- RAP3, APOA-V
- Chromosome:
- 11q23.3
- Locus Type:
- gene with protein product
- Date approved:
- 2001-12-11
- Date modifiied:
- 2016-10-05
Related products to: APOA5
Related articles to: APOA5
- Familial chylomicronemia syndrome (FCS) is a rare autosomal recessive disorder characterized by severe hypertriglyceridemia (sHTG) due to variants in canonical genes (LPL [lipoprotein lipase], APOA5, APOC2, GPIHBP1, and LMF1); its genotype distribution in Latin America remains scarcely reported. Given limited access to genetic testing and frequent negative results in clinically consistent cases, clinical scores and lipid ratios have been proposed to predict FCS. - Source: PubMed
Publication date: 2026/07/10
Fariña GregorioSleiman AmiraAlonso RodrigoGutiérrez Restrepo JonhayroSpagnuolo CamilaAgudelo Valencia NataliaGonzález Moore JosefinaSánchez Peñarete DianaSchvarzman NadiaGonzález Alejandro RománMonsalve ClaudiaCuevas AdaMelnik Luciana YennyCastaño Ceballos Pablo AlbertoLavalle Cobo AugustoEsteban Eduardo OsvaldoAimone DanielCastellanos Pinedo AlejandroNogueira Juan PatricioBerg Gabriela - Most drugs target proteins, and proteome-wide genetic analyses in diverse populations could discover potential novel and repurposed targets for improved prevention and treatment of ischemic heart disease (IHD) beyond statin therapy. - Source: PubMed
Publication date: 2026/07/20
Mazidi MohsenWright NeilPozarickij AlfredMillwood Iona YWalters RobinKartsonaki ChristianaBennett Derrick AYao PangDu HuaidongFry HannahYu CanqingIona AndriWang BaihanChen YipingSun DianjianyiYang LingLv JunIm Pek KeiAvery DanielGoel AnujWatkins HughWang HaoKyriakou TheodosiosBrennan PaulPeto RichardCollins RoryLi LimingClarke RobertChen Zhengming - Chylomicronemia is a genetically heterogeneous condition with both genetic and environmental determinants. Genetic studies have largely focused on European populations, with limited data from East Asians, particularly Han Chinese. We characterized the genetic profiles of chylomicronemia patients of mainly Han Chinese ancestry in Taiwan. - Source: PubMed
Publication date: 2026/07/10
Chao Eric Bo-RuJhan Siao-JyuanLin Po-ChihChou Yuh-TsyrChang Wen-ChiLuo Allen ChilunLin Mao-JanKuo Ching-HuaChen Yu-AnChen Pei-LungSu Ta-Chen - Severe hypertriglyceridemia (triglycerides ≥ 500 mg/dL) carries a high risk of recurrent acute pancreatitis and cardiovascular disease. Pathogenic variants in the APOA5 gene are associated with hyperlipoproteinemia type V and familial hypertriglyceridemia; however, detailed case reports involving variants of uncertain significance (VUS) with a severe clinical phenotype and documented therapeutic response are rarely published. A 46-year-old woman from rural Supía, Caldas, Colombia, presented with persistent very severe hypertriglyceridemia (peak: 2,170 mg/dL), three hospitalizations for acute pancreatitis, and inadequate response to statins and fibrates. Targeted exome sequencing identified a heterozygous APOA5 VUS: c.694T>C, p.Ser232Pro (NM_052968.5), classified as PM2/PP3 per ACMG criteria (ClinVar: VCV002617654.3). An off-label PCSK9 inhibitor regimen achieved a greater than 90% triglyceride reduction (nadir: 118 mg/dL), though adherence has been intermittent due to economic and healthcare access barriers. This case highlights the diagnostic value of targeted genetic testing in severe familial hypertriglyceridemia and illustrates how an APOA5 VUS may underlie a severe multifactorial chylomicronemia phenotype. Segregation analysis and functional studies in first-degree relatives are warranted to support variant reclassification. This report also underscores the impact of healthcare access barriers on rare metabolic disease outcomes in rural Latin America. - Source: PubMed
Publication date: 2026/06/15
Clavijo Rios Carlos JBolivar Egurrola Juan SMoreno Leon Julian M - Apolipoprotein A-IV (apoA-IV) plays key roles in lipid metabolism, reverse cholesterol transport, and kidney function, yet its genetic determinants remain poorly defined. We conduct a genome-wide association study (GWAS) meta-analysis of apoA-IV concentrations measured by ELISA in 25,181 individuals and combine these with proteomic data from 33,995 UK Biobank participants (Olink platform), yielding a total sample of 59,176. We perform genetic correlations and colocalization analyses to explore links with lipid, renal, and other complex traits. - Source: PubMed
Publication date: 2026/07/14
Koller AdrianaSchnitzer FlorianKollerits BarbaraLamina ClaudiaMoix SamuelClaringbould AnniqueMishra Binisha HLu HaojieSchachtl-Riess Johanna FForer LukasGieger ChristianKheirkhah AzinLehtimäki TerhoMarques-Vidal PedroSchönherr SebastianStark Klaus JWürzner ReinhardEckardt Kai-UweHeid Iris MKavousi MaryamKöttgen AnnaRaitakari OlliSijbrands Eric J GPeters AnnetteVollenweider PeterKronenberg Florian