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| Nakazone,Marcelo A.; De Marchi,Miguel A.; Pinhel,Marcela A.S.; Barros,Carolina F.D.C.; Júlio,Maysa A.F.; Pinheiro,Anielli; Arazi,Simone S.; Hotta,Júlia K.; Hirata,Mário H.; Hirata,Rosario D.C.; Santos,José E. dos; Souza,Dorotéia R.S.. |
| Xanthelasma might be a clinical manifestation of dyslipidemia, a recognized risk factor for coronary artery disease. We investigated the association of apolipoprotein E (APOE HhaI), apolipoprotein B (APOB XbaI and Ins/Del) and LDL receptor (LDLR AvaII and HincII) gene polymorphisms with lipid profiles in 100 Brazilians with xanthelasma and 100 controls. Allele frequencies were similar in both groups. APOE, APOB and LDLR genotypes were not correlated with differences in the serum lipid profile. In individuals with xanthelasma, the APOB D allele was associated with less chance of having increased LDL-cholesterol (O.R. = 0.16, CI95% = 0.03-0.94, p = 0.042). In the control group, the APOB X+ allele was associated with less chance of having both increased total... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Apolipoprotein B; Apolipoprotein E; LDL receptor; Gene polymorphisms; Xanthelasma. |
| Ano: 2009 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572009000200004 |
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| Salazar,L.A.; Cavalli,S.A.; Hirata,M.H.; Diament,J.; Forti,N.; Giannini,S.D.; Nakandakare,E.R.; Bertolami,M.C.; Hirata,R.D.C.. |
| Familial hypercholesterolemia (FH) is a metabolic disorder inherited as an autosomal dominant trait characterized by an increased plasma low-density lipoprotein (LDL) level. The disease is caused by several different mutations in the LDL receptor gene. Although early identification of individuals carrying the defective gene could be useful in reducing the risk of atherosclerosis and myocardial infarction, the techniques available for determining the number of the functional LDL receptor molecules are difficult to carry out and expensive. Polymorphisms associated with this gene may be used for unequivocal diagnosis of FH in several populations. The aim of our study was to evaluate the genotype distribution and relative allele frequencies of three... |
| Tipo: Info:eu-repo/semantics/other |
Palavras-chave: Familial hypercholesterolemia; DNA polymorphism; Atherosclerosis; Genetics; LDL receptor. |
| Ano: 2000 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2000001100006 |
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