Hipertrigliceridemias de origen genético / Hypertriglyceridemias of genetic origen
Rev. chil. endocrinol. diabetes
; 4(2): 118-125, abr. 2011. tab, ilus
Article
em Es
| LILACS
| ID: lil-640599
Biblioteca responsável:
CL1.1
ABSTRACT
Hypertriglyceridemia (HTG) is defined as plasma triglycerides (TG) > 150 mg/dL, and it is a frequent disease in the general population. When plasma TG reach concentrations > 500 mg/dL (severe HTG), there is usually a genetic defect involved. This defect can involve a single gene or be of polygenic inheritance. In polygenic HTG, the phenotypic expression of the disease is usually associated to the presence of certain diseases such as diabetes, obesity or insulin resistance. The most common known genes associated with monogenic hypertriglyceridemia are LPL and APOC2, but in recent years a few cases caused by mutant APOA5, GPIHBP1 and LMF1, have been identified. Furthermore, genome wide association studies (GWA) have brought up new genes that are related to discrete changes in triglyceride plasma levels of the general population. Among them, it is worth mentioning GCKR, TRIB1, MLXIPL, GALNT2, APOB, APOC2, APOA5, APOE, LPL, ANGPTL3 and NCAN. It is remarkable that most severe hypertriglyceridemias are of polygenic origin, and they could involve a major susceptibility gene. Only in a few cases of severe or very severe HTG (TG > 2.000 mg/dL) the genetic cause is known.
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Coleções:
01-internacional
Base de dados:
LILACS
Assunto principal:
Hipertrigliceridemia
Tipo de estudo:
Diagnostic_studies
/
Etiology_studies
/
Prognostic_studies
/
Risk_factors_studies
Limite:
Humans
Idioma:
Es
Revista:
Rev. chil. endocrinol. diabetes
Assunto da revista:
ENDOCRINOLOGIA
Ano de publicação:
2011
Tipo de documento:
Article
País de afiliação:
Chile
País de publicação:
Chile