Study of the genetic transmission of hypercholesterolemia and hypertriglyceridemia in a 195 member kindred.

Annals of Human Genetics
R C ElstonV Leuba

Abstract

A pedigree of complex structure, comprising 195 individuals, is shown to be segregating for an autosomal dominant gene for hypercholesterolemia. The same pedigree shows two groups of individuals with respect to plasma triglyceride levels; the cause of this appears to be independent of the locus demonstrated, which accounts for over 50% of the variability in cholesterol levels in the kindred studied. The power of bivariate analyses of multigenerational data, as used in this study, is discussed. The lipid disorders in this family, however, differ from the usual familial hypercholesterolemia described by Harlan et al. (1966) in that there is a group of individuals who have elevated triglycerides, there is a substantial amount of premature cardiovascular disease, and not very many individuals have tendonous xanthomas. It is of course possible that in this family the genetic entity is a variant of the usual hypercholesterolemia mutant; or it may be the usual mutant, acting in concert with some other unknown factor. The cause of the two groups with respect to triglycerides is not clear; but, whether it is genetic or environmental, it is independent of the segregation for hypercholesterolemia.

References

Feb 1, 1973·The American Journal of Medicine·H G RoseJ I Haft
Nov 1, 1973·Metabolism: Clinical and Experimental·C J GlueckP Steiner
Oct 1, 1973·Metabolism: Clinical and Experimental·C J GlueckP Steiner
May 1, 1972·Annals of Internal Medicine·H G SchrottA G Motulsky
Jan 1, 1971·Human Heredity·R C Elston, J Stewart
Nov 1, 1969·The Journal of Clinical Investigation·D S FredricksonF T Lindgren
Dec 1, 1965·The Journal of Clinical Investigation·R S Lees, D S Fredrickson
May 1, 1966·Analytical Biochemistry·C L Rosano
Sep 1, 1955·The Journal of Clinical Investigation·R J HAVELJ H BRAGDON
Jan 1, 1959·The American Journal of Medicine·F H EPSTEINT FRANCIS
Jul 1, 1960·Clinica Chimica Acta; International Journal of Clinical Chemistry·M BURSTEIN, J SAMAILLE
Jul 5, 2007·Journal of Lipid Research·Barbara P AtshavesFriedhelm Schroeder
Oct 1, 1948·Annals of Internal Medicine·C F WILKINSONM T FLIEGELMAN

❮ Previous
Next ❯

Citations

Jan 1, 1980·Behavior Genetics·F I LewitterR C Elston
May 3, 2005·TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik·A F KrivanekM A Walker
Jun 1, 1981·Journal of Affective Disorders·E SmeraldiK K Kidd
Sep 1, 2008·Animal : an International Journal of Animal Bioscience·S G Gebhardt-HenrichA Steiger
Feb 16, 2011·Proceedings of the National Academy of Sciences of the United States of America·Emma HineMark W Blows
Mar 1, 1994·Journal of Biopharmaceutical Statistics·W D JohnsonA R Wickremasinghe
Feb 7, 2003·The Journal of Small Animal Practice·T R FamulaA M Oberbauer
Mar 5, 2010·Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology·Xiangqing SunAmitabh Chak
Nov 11, 1999·American Journal of Respiratory and Critical Care Medicine·C J HolbergF D Martinez
May 4, 2006·BMC Veterinary Research·A M OberbauerT R Famula
Nov 15, 2007·BMC Veterinary Research·Thomas R FamulaGeorge M Strain
Feb 5, 2008·American Journal of Veterinary Research·Anita M OberbauerThomas R Famula
Jul 7, 2011·American Journal of Veterinary Research·Leah S BraultM Cecilia T Penedo
May 1, 1981·Annals of Human Biology·D Kolakowski, H L Bailit
Jan 1, 1993·Genetic Epidemiology·J E Bailey-Wilson, R C Elston
Jan 1, 1993·Genetic Epidemiology·C StrickerR C Elston
Jan 1, 1993·Genetic Epidemiology·E A ThompsonE M Wijsman
Jan 1, 1990·Genetic Epidemiology·S O MoldinL Erlenmeyer-Kimling
Jan 1, 1990·Genetic Epidemiology·F M DemenaisG E Bonney
Jan 19, 2008·Translational Research : the Journal of Laboratory and Clinical Medicine·Christine E McLarenUNKNOWN Hemochromatosis and Iron Overload Screening Study Research Investigators
Jun 1, 1982·Metabolism: Clinical and Experimental·P M LaskarzewskiC J Glueck
May 1, 1982·Preventive Medicine·P M LaskarzewskiC J Glueck
Jan 1, 1987·Genetic Epidemiology·R Chakraborty, C L Hanis
Jul 1, 1986·Statistics in Medicine·E A Thompson
Nov 21, 1978·Journal of Theoretical Biology·S Karlin, D Carmelli
Jul 14, 2007·Genomics·Jeffrey C PhillipsJohn Dillberger
Nov 19, 2008·Research in Veterinary Science·Kimberly A GreerKeith E Murphy
May 1, 1993·Arteriosclerosis and Thrombosis : a Journal of Vascular Biology·M A AustinR M Krauss
Jul 31, 2002·Journal of Dairy Science·S A Fernández, R L Fernando
Aug 3, 2007·Journal of the American Veterinary Medical Association·Angela M HughesDanika L Bannasch

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.