Smoking behavior is influenced by genetic factors. Polymorphisms affecting the dopaminergic system have been linked to smoking habits. The aim of this study was to investigate if the T102C polymorphism of the 5-HT(2A) receptor gene is related to tobacco use, since this receptor modulates the mesolimbic dopamine system and the C allele is associated with reduced receptor gene expression. A sample of 625 subjects were genotyped and classified according to their smoking behavior (never, former, or current smokers). We found differences in the distribution of the genotypes when the current smokers were compared with the never + former smokers, suggesting that T102C polymorphism is associated with maintenance, but not with initiation of the smoking habit. The CC genotype was more frequent in the current smokers than in the never + former smokers (chi(2) = 6.825, P = 0.03). The odds ratio of being a current smoker with a CC genotype was 1.63, 95% CI 1.06-2.51.
Oxidative stress has been related to aging. Recent evidences suggest that a genetic dimorphism that encodes for either alanine or valine in superoxide dismutase (SOD2) is involved with oxidative stress. However, the current literature is still controversial, and the potential role of the Ala16Val polymorphism in human aging needs to be established. Here we investigated the role of the SOD2 polymorphism in: a) age-related mortality, b) morbidity (breast and prostate cancer), c) immunological markers, and d) DNA damage in peripheral blood cells. We did not find an association between SOD2 polymorphisms and mortality. However, the AA genotype was associated with increased risk for prostate and breast cancer, immunosenescence profile, as well as DNA damage. These data suggest that SOD2 presents characteristics that support the free radical theory of aging.
Apolipoprotein E (ApoE) polymorphism influences lipid metabolism, but its association with arterial hypertension is controversial. The objective of this study was to examine the association between ApoE polymorphism and prevalent hypertension in a large unselected population of older adults. Participants from the baseline of the Bambuí Health Aging Study whose ApoE genes had been genotyped were selected for this study (N = 1406, aged 60-95 years). These subjects represented 80.7% of the total elderly residents in Bambuí city, MG, Brazil. Hypertension was defined as a systolic blood pressure ≥140 mmHg and/or a diastolic blood pressure ≥90 mmHg, or the use of anti-hypertensive medication. The exposure variable was the ApoE genotype as follows: ε3 carriers, ε3ε3; ε2 carriers, ε2ε2 or ε2ε3, and ε4 carriers, ε3ε4 or ε4ε4. Potential confounding variables were age, gender, traditional cardiovascular risk factors, uric acid, and creatinine levels. The prevalence of hypertension was 61.3%. Compared with the ε3 homozygotes, neither the ε2 nor the ε4 carrier status was associated with hypertension (adjusted prevalence ratios = 0.94, 95%CI = 0.83-1.07 and 0.98, 0.89-1.07, respectively). On the other hand, the ε2 allele carriers had lower LDL cholesterol levels (P < 0.001) and the ε4 carriers had higher LDL cholesterol levels (P = 0.036). This study provides epidemiologic evidence that the ApoE genotype is not associated with prevalent hypertension in old age.
Na Região Sul do Brasil, a incidência de Anastrepha fraterculus (Wied.) flutua durante o ano, sendo que no inverno não são detectados adultos quando se utilizam métodos convencionais de coleta. Com o uso de armadilhas especiais capturaram-se adultos, ainda que, em número muito reduzido. Duas hipóteses são sugeridas para o seu aumento populacional após o inverno, nas regiões produtoras de frutíferas: a) repovoamento da região na primavera por populações circunvizinhas; e b) regulação metabólica diferencial no desenvolvimento de alguns indivíduos que conseguem sobreviver ao período crítico. A segunda hipótese foi testada no presente trabalho, analisando-se a influência de quatro temperaturas (9, 13, 20 e 25ºC) constantes sobre a maturação ovariana e sobre a longevidade das fêmeas dessa espécie. Apenas a 25 e 20ºC ocorreu amadurecimento ovariano. A expectativa de vida foi maior nas temperaturas intermediárias (20 e 13ºC) que nas temperaturas extremas (25 e 9ºC). A relação entre maturação ovariana e longevidade foi observada a 25 e 20ºC, sendo que a 25ºC o amadurecimento ovariano foi mais rápido, mas a expectativa de vida menor. Não se pode, portanto, descartar a hipótese de regulação do desenvolvimento como mecanismo populacional em A. fraterculus para repovoamento da região nos meses subseqüentes ao inverno.
Apolipoprotein E (ApoE) is one of the most extensively studied genes in the context of aging, but there are few population-based studies on ApoE polymorphism in the elderly in developing countries. The objective of the present study was to assess ApoE allele and genotype distribution in a large elderly community-based sample and its association with age, sex and skin color. Participants included 1408 subjects (80.8% of all residents aged ≥60 years) residing in Bambuí city, MG, Brazil. The DNA samples were subjected to the polymerase chain reaction amplification, followed by the restriction fragment length polymorphism technique, with digestion by HhaI. Analysis was carried out taking into consideration the six ApoE genotypes (ε3/ ε3, ε3/ε4, ε2/ε3, ε4/ε4, ε2/ε4, and ε2/ε2), the three ApoE alleles, and the number of ApoE4 alleles for each individual. The ε3 allele predominated (80.0%), followed by ε4 (13.5%) and ε2 (6.5%). All six possible genotypes were observed, the ε3/ε3 genotype being the most frequent (63.4%). This distribution was similar to that described in other western populations. Sex was not associated with number of ApoE4 alleles. Black skin color was significantly and independently associated with the presence of two ApoE4 alleles (age-sex adjusted OR = 7.38; 95%CI = 1. 93-28.25), showing that the African-Brazilian elderly have a high prevalence of the ε4 allele, as observed in blacks from Africa. No association between number of ApoE4 alleles and age was found, suggesting the absence of association of ApoE genotype with mortality in this population.
We cannot dismiss the possibility of the association between ACE polymorphism and age involving linkage disequilibrium, since the nature of this phenomenon is still controversial. From our studies, it appears that there is a correlation between age, ethnicity, and ACE polymorphism. More of such studies are warranted, as further investigation in this area will have a high clinical relevance to cardiovascular disease and aging research.
35, normal range 7-56 UI/L), high serum alkaline phosphatase (ALP) level (598, normal range 100-240 UI/ L) and high gamma glutamyl transpeptidase (GGT) level (312, normal range 5-30 UI/L). Hepatitis A, B, and C virus were excluded. These serum alterations indicated the need for an abdominal ultrasound, which showed hepatosteatosis without biliary tract dilatation and normal spleen volume. The patient was discharged, and follow-up was provided in an outpatient clinic.The patient was rehospitalized in February 2008, with itching and fatigue lasting for 2 months. On physical examination, the patient showed hyperpigmentation, dermatographism, and xerosis of skin. No symptoms or signs for congestive heart failure were detected. Laboratory tests showed high concentrations of GGT (1,048 UI/L), ALP (1,672 UI/L), ALT (104 UI/L), and AST (64 UI/L). Bilirubin values were normal (0.72 mg/dL), and creatinine levels were high (2.3, normal value 0.5-0.9 mg/dL). An abdominal ultrasound confirmed previous results, and magnetic resonance imaging was normal. Suspecting PBC, antimitochondrial and antinuclear antibodies were measured and found to be positive. Esophageal varices were highlighted using esophagogastroduodenoscopy, and the presence of dry eyes was confirmed according to breakup time and Shirmer tests. The diagnosis of PBC was confirmed. Percutaneous liver biopsy was not performed because the patient was older than 75. 8 Treatment was started with ursodeoxycholic acid and cholestyramine to reduce cholestasis-associated pruritus and to improve quality of life.This case highlights the possible occurrence of PBC in older men with persistent cholestasis, pruritus, and fatigue; symptoms not explained by other possible diagnoses have led to detection of PBC.In conclusion, in elderly patients, who frequently have common diseases, rare diseases must also be taken into consideration to provide the best medical care.
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