000070617 001__ 70617
000070617 005__ 20231219145817.0
000070617 0247_ $$2doi$$a10.1186/s12944-016-0251-2
000070617 0248_ $$2sideral$$a106072
000070617 037__ $$aART-2016-106072
000070617 041__ $$aeng
000070617 100__ $$0(orcid)0000-0002-9647-0108$$aLamiquiz-Moneo, I.
000070617 245__ $$aFrequency of rare mutations and common genetic variations in severe hypertriglyceridemia in the general population of Spain
000070617 260__ $$c2016
000070617 5060_ $$aAccess copy available to the general public$$fUnrestricted
000070617 5203_ $$aBackground: Hypertriglyceridemia (HTG) is a common complex metabolic trait that results of the accumulation of relatively common genetic variants in combination with other modifier genes and environmental factors resulting in increased plasma triglyceride (TG) levels. The majority of severe primary hypertriglyceridemias is diagnosed in adulthood and their molecular bases have not been fully defined yet. The prevalence of HTG is highly variable among populations, possibly caused by differences in environmental factors and genetic background. However, the prevalence of very high TG and the frequency of rare mutations causing HTG in a whole non-selected population have not been previously studied. Methods: The total of 23, 310 subjects over 18 years from a primary care-district in a middle-class area of Zaragoza (Spain) with TG >500 mg/dL were selected to establish HTG prevalence. Those affected of primary HTG were considered for further genetic analisys. The promoters, coding regions and exon-intron boundaries of LPL, LMF1, APOC2, APOA5, APOE and GPIHBP1 genes were sequenced. The frequency of rare variants identified was studied in 90 controls. Results: One hundred ninety-four subjects (1.04 %) had HTG and 90 subjects (46.4 %) met the inclusion criteria for primary HTG. In this subgroup, nine patients (12.3 %) were carriers of 7 rare variants in LPL, LMF1, APOA5, GPIHBP1 or APOE genes. Three of these mutations are described for the first time in this work. The presence of a rare pathogenic mutation did not confer a differential phenotype or a higher family history of HTG. Conclusion: The prevalence of rare mutations in candidate genes in subjects with primary HTG is low. The low frequency of rare mutations, the absence of a more severe phenotype or the dominant transmission of the HTG would not suggest the use of genetic analysis in the clinical practice in this population.
000070617 536__ $$9info:eu-repo/grantAgreement/ES/ISCIII/RD12-0042-0055$$9info:eu-repo/grantAgreement/ES/ISCIII/FIS/PI15-01983$$9info:eu-repo/grantAgreement/ES/ISCIII/FIS/PI13-02507
000070617 540__ $$9info:eu-repo/semantics/openAccess$$aby$$uhttp://creativecommons.org/licenses/by/3.0/es/
000070617 590__ $$a2.073$$b2016
000070617 591__ $$aNUTRITION & DIETETICS$$b52 / 80 = 0.65$$c2016$$dQ3$$eT2
000070617 591__ $$aBIOCHEMISTRY & MOLECULAR BIOLOGY$$b204 / 286 = 0.713$$c2016$$dQ3$$eT3
000070617 592__ $$a0.904$$b2016
000070617 593__ $$aBiochemistry (medical)$$c2016$$dQ1
000070617 593__ $$aEndocrinology$$c2016$$dQ2
000070617 593__ $$aEndocrinology, Diabetes and Metabolism$$c2016$$dQ2
000070617 593__ $$aClinical Biochemistry$$c2016$$dQ2
000070617 655_4 $$ainfo:eu-repo/semantics/article$$vinfo:eu-repo/semantics/publishedVersion
000070617 700__ $$aBlanco-Torrecilla, C.
000070617 700__ $$aBea, A. M.
000070617 700__ $$0(orcid)0000-0001-6650-8294$$aMateo-Gallego, R.
000070617 700__ $$0(orcid)0000-0002-1894-1621$$aPérez-Calahorra, S.
000070617 700__ $$aBaila-Rueda, L.
000070617 700__ $$aCenarro, A.
000070617 700__ $$0(orcid)0000-0001-7043-0952$$aCiveira, F.$$uUniversidad de Zaragoza
000070617 700__ $$0(orcid)0000-0001-6845-9334$$ade Castro-Orós, I.$$uUniversidad de Zaragoza
000070617 7102_ $$11007$$2610$$aUniversidad de Zaragoza$$bDpto. Medicina, Psiqu. y Derm.$$cArea Medicina
000070617 7102_ $$11002$$2060$$aUniversidad de Zaragoza$$bDpto. Bioq.Biolog.Mol. Celular$$cÁrea Bioquímica y Biolog.Mole.
000070617 773__ $$g15 (2016), 82 [8 pp.]$$pLipids health dis.$$tLipids in Health and Disease$$x1476-511X
000070617 8564_ $$s590318$$uhttps://zaguan.unizar.es/record/70617/files/texto_completo.pdf$$yVersión publicada
000070617 8564_ $$s81490$$uhttps://zaguan.unizar.es/record/70617/files/texto_completo.jpg?subformat=icon$$xicon$$yVersión publicada
000070617 909CO $$ooai:zaguan.unizar.es:70617$$particulos$$pdriver
000070617 951__ $$a2023-12-19-14:44:24
000070617 980__ $$aARTICLE