dbGaPapplication/xmlftp://ftp.ncbi.nlm.nih.gov/dbgap/studies/phs000511/phs000511.v1.p1/manifest/manifest_phs000511.Hypertriglyceridemia_I_III_V.v1.p1.c1.HTG.pdfftp://ftp.ncbi.nlm.nih.gov/dbgap/studies/phs000511/phs000511.v1.p1/release_notes/Release_Notes.phs000511.Hypertriglyceridemia_I_III_V.v1.p1.MULTI.pdfftp://ftp.ncbi.nlm.nih.gov/dbgap/studies/phs000511/phs000511.v1.p1/manifest/Study_Report.phs000511.Hypertriglyceridemia_I_III_V.v1.p1.MULTI.pdfftp://ftp.ncbi.nlm.nih.gov/dbgap/studies/phs000511/phs000511.v1.p1/pheno_variable_summaries/phs000511.v1.pht002819.v1.Hypertriglyceridemia_I_III_V_Sample_Attributes.data_dict.xmlftp://ftp.ncbi.nlm.nih.gov/dbgap/studies/phs000511/phs000511.v1.p1/pheno_variable_summaries/phs000511.v1.pht002817.v1.Hypertriglyceridemia_I_III_V_Sample.data_dict.xmlftp://ftp.ncbi.nlm.nih.gov/dbgap/studies/phs000511/phs000511.v1.p1/pheno_variable_summaries/phs000511.v1.pht002818.v1.p1.Hypertriglyceridemia_I_III_V_Subject_Phenotypes.var_report.xmlftp://ftp.ncbi.nlm.nih.gov/dbgap/studies/phs000511/phs000511.v1.p1/pheno_variable_summaries/phs000511.v1.pht002816.v1.Hypertriglyceridemia_I_III_V_Subject.data_dict.xmlftp://ftp.ncbi.nlm.nih.gov/dbgap/studies/phs000511/phs000511.v1.p1/pheno_variable_summaries/phs000511.v1.pht002817.v1.p1.Hypertriglyceridemia_I_III_V_Sample.var_report.xmlftp://ftp.ncbi.nlm.nih.gov/dbgap/studies/phs000511/phs000511.v1.p1/pheno_variable_summaries/phs000511.v1.pht002818.v1.Hypertriglyceridemia_I_III_V_Subject_Phenotypes.data_dict.xmlftp://ftp.ncbi.nlm.nih.gov/dbgap/studies/phs000511/phs000511.v1.p1/pheno_variable_summaries/phs000511.v1.pht002819.v1.p1.Hypertriglyceridemia_I_III_V_Sample_Attributes.var_report.xmlftp://ftp.ncbi.nlm.nih.gov/dbgap/studies/phs000511/phs000511.v1.p1/GapExchange_phs000511.v1.p1.xmlftp://ftp.ncbi.nlm.nih.gov/dbgap/studies/phs000511/phs000511.v1.p1/pheno_variable_summaries/phs000511.v1.pht002816.v1.p1.Hypertriglyceridemia_I_III_V_Subject.var_report.xmlftp://ftp.ncbi.nlm.nih.gov/dbgap/studies/phs000511/phs000511.v1.p1/pheno_variable_summaries/varreports_v3.xslftp://ftp.ncbi.nlm.nih.gov/dbgap/studies/phs000511/phs000511.v1.p1/pheno_variable_summaries/datadict_v2.xslftp://ftp.ncbi.nlm.nih.gov/dbgap/studies/phs000511/phs000511.v1.p1/dbGaPEx2.1.5.xsdprimaryOK200GenomicProbandsMendelianFamilyTherapy, MGC130048, GH05739, LcpIII, SGCG_HUMAN, 35 kDa dystrophin-associated glycoprotein, familial, SG-gamma, e(Pc), A4, L[[3]]CP3., Hypertriglyceridemias, TYPE, SGCG, LGMD2C, DAGA4, III, GH14582, 35DAG, sarcoglycan, 3, MAM, gamma-SG, LCP3, SCG3, DmelCG2043, treatment, gamma sarcoglycan, DmelCG7776, lcp3, DMDA1, DMLCP3, l(2)28-28-12, LCP-3, anon-35Fa, gamma (35kDa dystrophin-associated glycoprotein), Treatments, genetic, hypertriglyceridemia (disease), DmelCG5861, DMDA, CP3, hypertriglyceridemia, Therapeutic, anon-35Fc, 35kD dystrophin-associated glycoprotein, DmelLcp3, E(PC), BG:DS02740.11, anon-48Ac, SCARMD2, disease management, Therapies, gamma-sarcoglycan, Treatment, inherited genetic, CG7776, CG2043, constitutitional genetic, hereditary<p><ul>Inclusion:<li>See Surendran RP et al., <a href="http://www.ncbi.nlm.nih.gov/pubmed/22239554">J Inte Med, 2012</a></li></ul> <ul><li>TG &gt;10 mmol/l</li></ul> </p> <p><ul>Exclusion: <li>ApoE2E2</li></ul> <ul><li>Alcohol abuse</li></ul> <ul><li>Uncontrolled diabetes</li></ul> </p>https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000511<p>This is a cohort collected at the outpatient clinic of the AMC. Patients have been collected in the past 15 years.</p>Principal Investigator - E.S.G.Stroes, Prof. Dr - AMC, University of Amsterdam, Amsterdam, The NetherlandsFunding Source - U54 HG003067 - National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USAPrincipal Investigator - G.M.Dallinga-Thie, PhD - AMC, University of Amsterdam, Amsterdam, The NetherlandsCo-Investigator - Sekar Kathiresan, MD - Massachusetts General Hospital, Boston, MA, USAdbGaP3.1.1.34, RGD1564237, lc64p, ApoC2, JFP11, Tmem112., APOAV, HEL-S-37, Apo C II, LIPD, UNQ411/PRO773, Hypertriglyceridemias, function, 2400010G15Rik, cld, GPI-HBP1, APOC-II, Client, PLS2, Mutations, HYPL1D, 1110002J19Rik, pls2, Apolipoprotein C 2, APO-CII, Apoprotein C-II, LC64P, Apolipoprotein C II, Apo C-II, HMFN1876, cp64, HDLCQ11, C16orf26, LPL, L-PLASTIN, Apoprotein C II, l-plastin, AW822050, Apolipoprotein CII, 1300007O05Rik, Apolipoprotein C-2, hypertriglyceridemia (disease), loss of, TMEM112A, hypertriglyceridemia, Patient, lpl, Clients, TMEM112, CP64, RAP3, ApoavfalseTreatment of Genetic Screening of Hypertriglyceridemia type I, III, and V - HTG Amsterdam<p>This is a cohort of patients with extreme hypertriglyceridemia. Patients have been screened for loss of function mutations in LPL, GPIHBP1, APOC2, APOA5 and LMF1.</p>2012-10-022012-07-06phs000511Hypertriglyceridemia222395542159700520657596