Effects of APOE, APOB and LDLR variants on serum lipids and lack of association with xanthelasma in individuals from Southeastern Brazil

Genetics and Molecular Biology

Marcelo A. Nakazone²  Miguel A. De Marchi²  Marcela A.s. Pinhel²  Carolina F.d.c. Barros²  Maysa A.f. Júlio²  Anielli Pinheiro²  Simone S. Arazi¹  Júlia K. Hotta¹  Mário H. Hirata¹  Rosario D.c. Hirata¹  José E. Dos Santos¹  Dorotéia R.s. Souza² 

[1] ,Faculdade de Medicina de São José do Rio Preto Departamento de Biologia Molecular ão José do Rio Preto SP ,Brazil

关键词: apolipoprotein B;    apolipoprotein E;    LDL receptor;    gene polymorphisms;    xanthelasma;   

DOI  :  10.1590/S1415-47572009005000028

来源: SciELO

【 摘 要 】

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 cholesterol (O.R. = 0.16, CI95% = 0.03-0.78, p = 0.023) and increased LDL-cholesterol (O.R. = 0.10, CI95% = 0.02-0.60, p = 0.012). Moreover, there was a significantly higher frequency of control individuals (68%) with elevated serum triglyceride levels, compared to patients (48%, p = 0.008). On the other hand, triglyceride levels in controls also seemed to be influenced by all other gene polymorphisms studied, an effect that might be enhanced by environmental factors.

【 授权许可】

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