Human genetic platelet glycoprotein IV (CD36) deficiency may be related to the phenotypic expression of the metabolic syndrome and is frequently associated with atherosclerotic cardiovascular diseases. CD36 deficiency is relatively frequent in Asian and African populations. It also has been reported that CD36 deficiency might be linked with cardiomyopathy. This deficiency can be classified in two subgroups: the type I phenotype is characterized by platelets and monocytes/macrophages that exhibit CD36 deficiency; whereas in the type II phenotype, the surface expression of CD36 is lacking only in platelets, but expression is near normal in monocytes/macrophages.
Category
Inherited metabolic disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Metabolic disorders
Disorders of lipoprotein metabolism or certain specified lipidaemias
5C80 Hyperlipoproteinaemia
H01108 CD36 deficiency
Pathway-based classification of diseases [BR:br08402]
Cellular process
nt06535 Efferocytosis
H01108 CD36 deficiency
Podrez EA, Byzova TV, Febbraio M, Salomon RG, Ma Y, Valiyaveettil M, Poliakov E, Sun M, Finton PJ, Curtis BR, Chen J, Zhang R, Silverstein RL, Hazen SL
Title
Platelet CD36 links hyperlipidemia, oxidant stress and a prothrombotic phenotype.
Coronary artery disease (CAD) is one of the leading causes of death globally. CAD is coupled to a pathogenic process in which lipids and lipoproteins accumulate in the subendothelial intimal layer of the vessel wall. A variety of environmental and genetic risk factors are associated with CAD, including hypercholesterolemia, hypertension, obesity, diabetes, and a family history of early CAD. It has been reported that an autosomal dominant form of CAD is caused by the mutation in transcription factor MEF2A. A missense mutation in LRP6, which encodes a co-receptor in the Wnt signaling pathway, has also been identified.
Category
Cardiovascular disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
11 Diseases of the circulatory system
Diseases of coronary artery
BA8Z Diseases of coronary artery, unspecified
H01742 Coronary artery disease
Pathway-based classification of diseases [BR:br08402]
Cellular process
nt06535 Efferocytosis
H01742 Coronary artery disease
Wang L, Hauser ER, Shah SH, Pericak-Vance MA, Haynes C, Crosslin D, Harris M, Nelson S, Hale AB, Granger CB, Haines JL, Jones CJ, Crossman D, Seo D, Gregory SG, Kraus WE, Goldschmidt-Clermont PJ, Vance JM
Title
Peakwide mapping on chromosome 3q13 identifies the kalirin gene as a novel candidate gene for coronary artery disease.
Ye S, Eriksson P, Hamsten A, Kurkinen M, Humphries SE, Henney AM
Title
Progression of coronary atherosclerosis is associated with a common genetic variant of the human stromelysin-1 promoter which results in reduced gene expression.
