Publications (6) View all
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Article: Apolipoprotein A1 gene polymorphisms as risk factors for hypertension and obesity
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ABSTRACT: Several polymorphisms in apolipoprotein A1 (APOA1) gene have been associated with metabolic diseases. Increased transcription efficiency was observed in −75A allele carriers compared to −75G allele homozygotes. +83C allele was associated with higher body mass index and waist-to-hip ratio in type II diabetes subjects. −75G/A and +83C/T polymorphisms were analyzed by RFLP-PCR in 334 individuals from a Brazilian elderly cohort. APOA1 polymorphisms were associated with age-related morbidities, as well as with triglycerides, total cholesterol, HDL, VLDL, LDL, creatinine, urea, albumin, glycated hemoglobin and fasting glucose serum levels. Allele frequencies were 0.102 and 0.21, respectively, for −75A and +83T. −75G allele showed significant association with hypertension (P=0.001). An association between +83C allele and obesity was observed (P=0.040) and this allele also showed an association with hypertension in the presence of cardiovascular disease (P=0.047). Moreover, +83T allele was associated with lower glycated hemoglobin values (P=0.026). To our knowledge, there is no data associating this polymorphism with glycated hemoglobin. Furthermore, individuals carrying AT haplotype have lower risk for developing hypertension (P=0.0002), while GT haplotype carriers present decreased risk to develop obesity comparing to GC haplotype (P=0.025). APOA1 polymorphisms analysis may be a useful tool to identify risk factors for subjects and families and clarify the physiopathological role of these polymorphisms in age-related diseases, such as hypertension and obesity.Clinical and Experimental Medicine 04/2012; 9(4):319-325. · 1.58 Impact Factor -
Article: APOA4 Polymorphism as a Risk Factor for Unfavorable Lipid Serum Profile and Depression: A Cross-Sectional Study
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ABSTRACT: Introduction: APOA1/C3/A4/A5 gene cluster is closely involved in lipid metabolism, and its polymorphisms have been associated with coronary heart disease and lipid plasma levels. Here, we aimed to investigate associations of APOC3 (3238C>G, −482C>T, 1100C>T) and APOA4 (Gln360His, Thr347Ser) polymorphisms in 382 individuals from a cohort of a Longitudinal Brazilian Elderly Study with major age-related morbidities and with lipid and protein serum levels. Materials and Methods: The whole sample was genotyped by polymerase chain reaction-restriction fragment length polymorphism. Descriptive statistics, logistic regression analysis, Student t test, deviation from Hardy-Weinberg, Bonferroni correction for multiple testing, and haplotype analyses were performed. Results: Although APOC3 1100T allele carriers presented lower triglyceride and very low density lipoprotein levels than non-T carriers, these associations disappeared after Bonferroni correction (P > 0.05). Moreover, APOA4 360His allele was associated with depression (P = 0.03), increased triglyceride (P = 0.035) and very low density lipoprotein (P = 0.035) levels, and reduced HDL levels (P = 0.0005). Haplotype analyses found an association between His/C/C haplotype (Gln360His/−482C>T/1100C>T) with depression, but this result was due to Gln360His polymorphism. Conclusions: Our data suggest that 360His allele might be a risk factor for depression and unfavorable lipid profile and depression for elderly people in the Brazilian population.Journal of Investigative Medicine 07/2011; 59(6):966-970. · 1.96 Impact Factor -
Article: APOA4 polymorphism as a risk factor for unfavorable lipid serum profile and depression: a cross-sectional study.
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ABSTRACT: APOA1/C3/A4/A5 gene cluster is closely involved in lipid metabolism, and its polymorphisms have been associated with coronary heart disease and lipid plasma levels. Here, we aimed to investigate associations of APOC3 (3238C>G, -482C>T, 1100C>T) and APOA4 (Gln360His, Thr347Ser) polymorphisms in 382 individuals from a cohort of a Longitudinal Brazilian Elderly Study with major age-related morbidities and with lipid and protein serum levels. The whole sample was genotyped by polymerase chain reaction-restriction fragment length polymorphism. Descriptive statistics, logistic regression analysis, Student t test, deviation from Hardy-Weinberg, Bonferroni correction for multiple testing, and haplotype analyses were performed. Although APOC3 1100T allele carriers presented lower triglyceride and very low density lipoprotein levels than non-T carriers, these associations disappeared after Bonferroni correction (P > 0.05). Moreover, APOA4 360His allele was associated with depression (P = 0.03), increased triglyceride (P = 0.035) and very low density lipoprotein (P = 0.035) levels, and reduced HDL levels (P = 0.0005). Haplotype analyses found an association between His/C/C haplotype (Gln360His/-482C>T/1100C>T) with depression, but this result was due to Gln360His polymorphism. Our data suggest that 360His allele might be a risk factor for depression and unfavorable lipid profile and depression for elderly people in the Brazilian population.Journal of Investigative Medicine 06/2011; 59(6):966-70. · 1.96 Impact Factor -
Article: APOA1/A5 variants and haplotypes as a risk factor for obesity and better lipid profiles in a Brazilian Elderly Cohort.
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ABSTRACT: Genetic variations in the APOA1/C3/A4/A5 gene cluster have been studied and proposed to be the leading key for susceptibility to cardiovascular diseases and age-associated disorders. We aimed to investigate the associations of rs12721026 (APOA1) and rs1729408 (APOA5) polymorphisms and their haplotypes with some age-related diseases, as well as with lipids and proteins serum levels in a cohort from a Brazilian Elderly Longitudinal Study (EPIDOSO). Genotyping was performed by polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP). Statistical analyses were carried out using logistic regression analysis, Student's t-test, and linkage disequilibrium (LD) analysis. Polymorphic allele frequencies were 0.095 and 0.449 for rs12721026 and rs1729408, respectively. The C-allele of rs1729408 was associated with higher high-density lipoprotein (HDL) (P = 0.022) and glycated hemoglobin levels (P = 0.020). We also showed that rs12721026 and rs1729408 were in LD. The GC haplotype, which is composed of the G-allele of rs12721026 and the C-allele of rs1729408, was significantly associated with obesity (P = 0.028), with higher glycated hemoglobin (P = 0.006), and fasting glucose (P = 0.0003) compared to the TT haplotype, which includes the wild-type alleles of both polymorphisms. Moreover, we found an association between the TC haplotype and higher HDL levels (P = 0.0039). This is the first time that haplotypes involving these polymorphisms were evaluated. Our results showed that these polymorphisms were involved in the development of obesity and in alterations of lipids and proteins serum levels in a Brazilian population. The present findings might also clarify the role of these polymorphisms and their haplotypes in lipids and proteins metabolism.Lipids 06/2010; 45(6):511-7. · 2.13 Impact Factor -
Article: Association of PPARalpha gene polymorphisms and lipid serum levels in a Brazilian elderly population.
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ABSTRACT: Peroxisome proliferator-activated receptor alpha (PPARalpha) is a nuclear transcription factor strictly involved in lipid and lipoprotein metabolisms. Thus, PPARalpha gene polymorphisms have been investigated as cardiovascular risk factors. We aimed to investigate associations of L162V and intron 7G>C polymorphisms with common morbidities affecting a Brazilian elderly cohort as well as with lipid and protein serum levels. Genotyping was performed by polymerase chain reaction followed by restriction fragment length polymorphism (PCR-RFLP), and allele frequencies were determined. In addition, we performed the linkage disequilibrium analysis. Descriptive statistics, logistic regression analysis, and Student's t-test were used. Rare alleles for L162V and intron 7 G>C polymorphisms showed frequencies of 0.047 and 0.199, respectively. Our data showed that these polymorphisms were in linkage disequilibrium (p=0.0002). Intron 7 G>C polymorphism presented a tendency of association with neoplasia (p=0.053), and C allele was associated with higher HDL (p=0.010), lower triglycerides (p=0.001), and VLDL levels (p=0.003) compared to G allele. These data might suggest a protective role of intron 7 G>C polymorphism in the development of cardiovascular diseases and will help to clarify the importance of PPARalpha polymorphisms as key modulators of lipid metabolism in Brazilian population.Experimental and Molecular Pathology 10/2009; 88(1):197-201. · 2.42 Impact Factor
