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High baseline serum total and LDL cholesterol levels are associated with MDR1 haplotypes in Brazilian hypercholesterolemic individuals of European descent BJMBR
Rodrigues,A.C.; Rebecchi,I.M.M.; Bertolami,M.C.; Faludi,A.A.; Hirata,M.H.; Hirata,R.D.C..
The MDR1 gene encodes the P-glycoprotein, an efflux transporter with broad substrate specificity. P-glycoprotein has raised great interest in pharmacogenetics because it transports a variety of structurally divergent drugs, including lipid-lowering drugs. The synonymous single-nucleotide polymorphism C3435T and the nonsynonymous single-nucleotide polymorphism G2677T/A in MDR1 have been indicated as potential determinants of variability in drug disposition and efficacy. In order to evaluate the effect of G2677T/A and C3435T MDR1 polymorphisms on serum levels of lipids before and after atorvastatin administration, 69 unrelated hypercholesterolemic individuals from São Paulo city, Brazil, were selected and treated with 10 mg atorvastatin orally once daily for...
Tipo: Info:eu-repo/semantics/article Palavras-chave: MDR1 gene; Hypercholesterolemia; Statins; Single nucleotide polymorphism; Pharmacogenetics.
Ano: 2005 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2005000900014
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Lipoprotein lipase PvuII polymorphism is associated with variations in serum lipid levels in non-diabetic pregnant women BJMBR
Sepetiba,R.J.C.; Andrade,J.; Hirata,R.D.C.; Hirata,M.H.; Sepetiba,C.R.G.; Nakamura,Y.; Matsumoto,L.O.; Cavalli,S.A.; Bertolami,M.C..
The aim of the present study was to determine if there is an association between the single nucleotide polymorphisms (SNPs) of the lipoprotein lipase (LPL) and apolipoprotein E (apo E) genes and the serum lipid profile in pregnancy and puerperium. Non-diabetic women of European descent in the third semester of pregnancy (N = 120) were selected. Those with diseases or other condition that could modify their lipid profile were excluded from the study (N = 32). Serum lipids were measured by routine laboratory procedures and genomic DNA was extracted by a salting out method. LPL (PvuII and HindIII) and apo E (HhaI) SNPs were detected by the polymerase chain reaction and restriction fragment length polymorphism. Categorical and continuous variables were...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Lipoprotein lipase; LPL PvuII polymorphism; Apolipoprotein E; Single nucleotide polymorphism; Serum lipids; Non-diabetic pregnancy.
Ano: 2007 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2007000700005
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Polymorphisms of the low-density lipoprotein receptor gene in Brazilian individuals with heterozygous familial hypercholesterolemia BJMBR
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
Registros recuperados: 3
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