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Artículo en Inglés | IMSEAR | ID: sea-135596

RESUMEN

The role of apolipoprotein E (apo E) in lipid metabolism and cholesterol transport is well established. About 14 per cent of the variation in plasma cholesterol levels is attributed to polymorphisms in apo E gene (APOapo E). E consists of three common alleles, designated as ε2, ε3 and ε4 which code for E2, E3 and E4 proteins respectively resulting in three homozygous (E2/E2, E3/E3, E4/E4) and three heterozygous (E3/E2, E4/E2 and E4/E3) phenotypes. Different populations studied worldwide inherit variable frequencies of the E alleles and genotypes, with the most frequent allele being ε3.The ε4 allele has been consistently shown to be associated with Alzheimer’s disease, coronary heart disease and cerebrovascular disorders. In this review, we have discussed the role of apo E polymorphisms in cerebrovascular and coronary heart diseases. The status of apo E polymorphisms and their disease associations in Asian Indians besides, other populations has also been discussed. Further, studies elucidating the pathophysiology of apo E deficiency conducted in knock-out mice have been reviewed.


Asunto(s)
Alelos , Enfermedad de Alzheimer/genética , Animales , Apolipoproteínas E/deficiencia , Apolipoproteínas E/genética , Apolipoproteínas E/metabolismo , Sistema Nervioso Central/metabolismo , Trastornos Cerebrovasculares/genética , Colesterol/metabolismo , Enfermedad Coronaria/genética , Humanos , India , Lípidos/sangre , Proteína 1 Relacionada con Receptor de Lipoproteína de Baja Densidad/metabolismo , Ratones , Ratones Noqueados , Polimorfismo Genético/genética
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