Evaluation of apolipoprotein A5 variants: A cohort of patients with severe hypertriglyceridemia from Turkiye

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dc.authoridPARILTAY, Erhan/0000-0002-7877-6103
dc.authoridHegele, Robert/0000-0003-2861-5325
dc.authoridozgul, semiha/0000-0002-0220-1207
dc.authoridYILDIRIM SIMSIR, ILGIN/0000-0002-6801-8499
dc.authoridCakmak, Batuhan/0000-0003-3442-2423
dc.contributor.authorCakmak, B.
dc.contributor.authorYeral, S.
dc.contributor.authorOzcan, B.
dc.contributor.authorPariltay, E.
dc.contributor.authorOzgul, S.
dc.contributor.authorSimsir, I. Y.
dc.contributor.authorHegele, R. A.
dc.date.accessioned2024-08-31T07:47:11Z
dc.date.available2024-08-31T07:47:11Z
dc.date.issued2024
dc.departmentEge Üniversitesien_US
dc.description.abstractBACKGROUND: This study aims to show the clinical and biochemical features in patients with severe hypertriglyceridemia (HTG) associated with rare variants in the apolipoprotein A-V ( APOA5 ) gene. MATERIALS AND METHODS: Demographics, blood lipid levels, body mass index (BMI) and APOA5 mutation subtypes were collected from the endocrinology clinic registry and analyzed for a retrospective cohort study of ten patients with severe HTG and APOA5 gene variants. RESULTS: Of the 10 cases, four were female, and six were male. The median age was 45.0 years (min-max: 21-60 years), the median triglyceride was 2429.5 mg/dL (27.5 mmol/L) (min-max: 1351- 4087 mg/dL, 15.3-46.2 mmol/L), and the mean BMI was calculated as 30.4 +/- 4.4 kg/m2 (min-max: 24.9- 41.0 kg/m2 ). Four cases had diabetes mellitus (DM); two were on intensive insulin therapy, and two were on basal insulin therapy. The mean hemoglobin A1c was 9.2 +/- 1.2 % (min-max: 8.3-11.0 %). Among the study group, eight different APOA5 gene mutations were detected. These variants were heterozygous in 2 patients and homozygous (bi-allelic) in 8 patients. One patient was homozygous for APOA5 p.Ser19Trp, a relatively common polymorphism that is a risk variant for HTG. CONCLUSION: We report a cohort of patients with biallelic and single copy APOA5 variants, who were diagnosed later in life. Most had secondary factors, such as DM or obesity with increased BMI. Most rare APOA5 variants found in our patients were of uncertain significance. Our results add to the growing evidence that rare variants in certain candidate genes may predispose to developing HTG, together with secondary factors such as obesity. The genetic basis of HTG in many other patients is still unknown and remains the subject of further investigation. (c) 2024 Published by Elsevier Inc. on behalf of National Lipid Association.en_US
dc.identifier.doi10.1016/j.jacl.2023.09.015
dc.identifier.endpagee429en_US
dc.identifier.issn1933-2874
dc.identifier.issn1876-4789
dc.identifier.issue3en_US
dc.identifier.pmid38627169en_US
dc.identifier.scopus2-s2.0-85190413865en_US
dc.identifier.scopusqualityQ1en_US
dc.identifier.startpagee423en_US
dc.identifier.urihttps://doi.org/10.1016/j.jacl.2023.09.015
dc.identifier.urihttps://hdl.handle.net/11454/104327
dc.identifier.volume18en_US
dc.identifier.wosWOS:001259994100001en_US
dc.identifier.wosqualityN/Aen_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherElsevier Science Incen_US
dc.relation.ispartofJournal of Clinical Lipidologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.snmz20240831_Uen_US
dc.subjectApolipoprotein A-Ven_US
dc.subjectHypertriglyceridemiaen_US
dc.subjectPancreatitisen_US
dc.subjectOverweighten_US
dc.titleEvaluation of apolipoprotein A5 variants: A cohort of patients with severe hypertriglyceridemia from Turkiyeen_US
dc.typeArticleen_US

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