ABSTRACT
Interleukin 12 plays an important role in immunoregulation between the T helper 1/T helper 2 lymphocytes and in the antiviral and antitumor immune response. The aim of this study was to investigate the possible association between the interleukin 12B polymorphism rs3212227 and the risk to develop Hodgkin's lymphoma in childhood and adolescents. A total of 100 patients with Hodgkin's lymphoma and a group of 181 healthy controls were selected at random from a forensic laboratory of the University of Pernambuco. The AA genotype was detected in the controls (53.04%) and the AC genotype was found in the patients (54%). The AC genotype showed an association with the development of Hodgkin's lymphoma (odds ratio = 2.091, 95% confidence interval = 1.240-3.523, p = 0.007). When AC + CC genotypes were analyzed together, an increase in risk of 1.9 times more chances for HL development could be observed (odds ratio = 1.923, 95% confidence interval = 1.166-3.170, p = 0.014). However, there was no association between the AC and CC genotypes of the interleukin 12B polymorphism with the clinical risk group (p = 0.992, p = 0.648, respectively). Our results suggest that the presence of the C allele may be contributing to the development of Hodgkin's lymphoma in children and adolescents.
Subject(s)
3' Untranslated Regions/genetics , Hodgkin Disease/epidemiology , Hodgkin Disease/genetics , Interleukin-12 Subunit p40/genetics , Polymorphism, Single Nucleotide , Adolescent , Adult , Alleles , Brazil/epidemiology , Case-Control Studies , Child , Child, Preschool , Cross-Sectional Studies , Female , Genotype , Humans , Male , Risk Factors , Young AdultABSTRACT
BACKGROUND: Polymorphism of the gene for apolipoprotein E (APOE) is an important risk factor for the development of Alzheimer's disease. The epsilon4 allele of the APOE gene has been linked with a number of neuropsychiatric illnesses, and also with stress and depression among geriatric populations. OBJECTIVE: To identify APOE-epsilon4 polymorphism and correlate this with cognitive deficit among the elderly population of the island of Fernando de Noronha. METHOD: Neuropsychiatric tests (mini-mental state examination, verbal fluency test and clock drawing test) were applied to 52 elderly people without Alzheimer's disease. DNA was isolated from peripheral blood and genotyping of APOE was done by the PCR-RFLP method. RESULTS: 87% of the elderly population (mean age 69.6+/-7.0) had cognitive deficit. CONCLUSION: The observed frequency of the epsilon4 allele was 10%, but the correlation between the presence of epsilon4 and cognitive deficit in this population was not statistically significant.
Subject(s)
Apolipoprotein E4/genetics , Cognition Disorders/genetics , Polymorphism, Genetic , Age Factors , Aged , Aged, 80 and over , Alleles , Alzheimer Disease/diagnosis , Alzheimer Disease/genetics , Analysis of Variance , Brazil/epidemiology , Brief Psychiatric Rating Scale , Chi-Square Distribution , Cognition/physiology , Cognition Disorders/epidemiology , Cognition Disorders/psychology , Educational Status , Female , Genotype , Geriatric Assessment , Humans , Male , Middle Aged , Neuropsychological Tests , Sex FactorsABSTRACT
BACKGROUND: Polymorphism of the gene for apolipoprotein E (APOE) is an important risk factor for the development of Alzheimer's disease. The ε4 allele of the APOE gene has been linked with a number of neuropsychiatric illnesses, and also with stress and depression among geriatric populations. OBJECTIVE: To identify APOE-ε4 polymorphism and correlate this with cognitive deficit among the elderly population of the island of Fernando de Noronha. METHOD: Neuropsychiatric tests (mini-mental state examination, verbal fluency test and clock drawing test) were applied to 52 elderly people without Alzheimer's disease. DNA was isolated from peripheral blood and genotyping of APOE was done by the PCR-RFLP method. RESULTS: 87 percent of the elderly population (mean age 69.6±7.0) had cognitive deficit. CONCLUSION: The observed frequency of the ε4 allele was 10 percent, but the correlation between the presence of ε4 and cognitive deficit in this population was not statistically significant.
INTRODUÇÃO: Polimorfismos no gene da apoliproteína E (APOE) são importantes fatores de risco para o desenvolvimento da doença de Alzheimer (DA). O alelo ε4 do gene APOE tem sido relacionado com declínio cognitivo e algumas doenças neuropsiquiátricas, primariamente a doença de Alzheimer. OBJETIVO: Identificar os polimorfismos de APOE-ε4 e relacionar com deficit cognitivo na população idosa da ilha de Fernando de Noronha. MÉTODO: Foram aplicados testes neuropsiquiátricos (mini exame do estado mental, teste de fluência verbal e teste do relógio) em 52 idosos sem DA. O DNA foi isolado do sangue periférico e a genotipagem de APOE foi realizada por PCR-RFLP. RESULTADOS: 87 por cento da população idosa com idade média de 69.6±7.0 apresentou déficit cognitivo. Foi observada uma freqüência de 10 por cento do alelo ε4. CONCLUSÃO: Não foi encontrada significância estatística quando relacionada a presença deste alelo e déficit cognitivo nos idosos avaliados.
Subject(s)
Aged , Aged, 80 and over , Female , Humans , Male , Middle Aged , /genetics , Cognition Disorders/genetics , Polymorphism, Genetic , Age Factors , Alleles , Analysis of Variance , Alzheimer Disease/diagnosis , Alzheimer Disease/genetics , Brief Psychiatric Rating Scale , Brazil/epidemiology , Chi-Square Distribution , Cognition Disorders/epidemiology , Cognition Disorders/psychology , Cognition/physiology , Educational Status , Genotype , Geriatric Assessment , Neuropsychological Tests , Sex FactorsABSTRACT
Allele frequencies for 13 short tandem repeats (STR) loci obtained from a sample of 546 unrelated individuals from the State of Pernambuco, northeast Brazil, were studied. This population represents a trihybrid population composed of individuals presenting an admixture of Caucasian, African, and Native American. In the present study, the distributions of the genotypes in the evaluated loci CSF1PO, TH01, TPOX, F13A1, FESFPS, vWA, D16S539, D7S820, D13S317, D18S51, D21S11, D8S1179, FGA are in Hardy-Weinberg equilibrium. These loci were studied together with the Amel locus to perform the CODIS systems used in the USA. The calculated forensic parameters showed that the loci are useful for the solution of forensic problems in the Brazilian northeast region.
