RESUMO
AIM: The prevalence and risk factors of hepatitis B virus (HBV) infection in the general population in Romania are still largely unknown. METHODS: A nationwide cross-sectional survey among a Romanian adult population (18-69 years) was conducted during 2006-2008 using a stratified, multistage sampling design. A total of 17 600 individuals were enrolled randomly into the study; the prevalence of chronic HBV infection (HBsAg-positive and anti-HBcAb-positive samples) was assessed on 13 127 individuals (74.6%) and a history of previous HBV infection (anti-HBcAb-positive, but HBsAg-negative samples) was assessed on 12 470 individuals (70.5%). A questionnaire was used to collect information on the sociodemographic characteristics of the participants and the potential risk factors for HBV transmission. RESULTS: The overall prevalence rate of HBV chronic infection among all the participants tested was 4.4% (confidence interval: 4.0-4.8%), with significant differences (P=0.0001) between participants from the main geographical regions of residence (Moldavia 4.5%, Muntenia and Dobrogea 5.4%, and Transylvania and Banat 3.1%). The total prevalence of previous HBV infection of all participants was 27.0% (confidence interval: 26.2-27.8%). The proportion of individuals with previous HBV infection, as well as with chronic HBV infection, showed a statistically significant increasing trend with age. The personal history of blood or blood product transfusion, surgical interventions, tattooing, and alcohol consumption greater than 60 g/day were risk factors associated with both anti-HBcAb and HBsAg seropositivity. CONCLUSION: A prevalence rate of 4.4 and 27.0% for HBsAg and anti-HBcAb, respectively, represents a high figure within the European Union and a strong motivation for developing adequate strategies for prevention, active detection, and treatment of HBV infection in Romania.
Assuntos
Hepatite B Crônica/epidemiologia , Adolescente , Adulto , Fatores Etários , Idoso , Consumo de Bebidas Alcoólicas/efeitos adversos , Consumo de Bebidas Alcoólicas/epidemiologia , Biomarcadores/sangue , Distribuição de Qui-Quadrado , Estudos Transversais , Feminino , Inquéritos Epidemiológicos , Anticorpos Anti-Hepatite B/sangue , Antígenos de Superfície da Hepatite B/sangue , Hepatite B Crônica/sangue , Hepatite B Crônica/diagnóstico , Hepatite B Crônica/transmissão , Humanos , Modelos Logísticos , Masculino , Pessoa de Meia-Idade , Análise Multivariada , Razão de Chances , Prevalência , Recidiva , Características de Residência , Fatores de Risco , Romênia/epidemiologia , Fatores Sexuais , Procedimentos Cirúrgicos Operatórios/efeitos adversos , Tatuagem/efeitos adversos , Reação Transfusional , Adulto JovemRESUMO
In Western countries, prostate cancer is the most prevalent cancer of men and one of the leading causes of cancer-related death in men. Several genome-wide association studies have yielded numerous common variants conferring risk of prostate cancer. Here, we analyzed 32.5 million variants discovered by whole-genome sequencing 1,795 Icelanders. We identified a new low-frequency variant at 8q24 associated with prostate cancer in European populations, rs188140481[A] (odds ratio (OR) = 2.90; P(combined) = 6.2 × 10(-34)), with an average risk allele frequency in controls of 0.54%. This variant is only very weakly correlated (r(2) ≤ 0.06) with previously reported risk variants at 8q24, and its association remains significant after adjustment for all known risk-associated variants. Carriers of rs188140481[A] were diagnosed with prostate cancer 1.26 years younger than non-carriers (P = 0.0059). We also report results for a previously described HOXB13 variant (rs138213197[T]), confirming it as a prostate cancer risk variant in populations from across Europe.
Assuntos
Adenocarcinoma/genética , Mutação , Neoplasias da Próstata/genética , Idoso , Idoso de 80 Anos ou mais , Sequência de Bases , Linhagem Celular , Cromossomos Humanos Par 8 , Frequência do Gene , Predisposição Genética para Doença , Genoma Humano , Estudo de Associação Genômica Ampla , Proteínas de Homeodomínio/genética , Humanos , Islândia , Masculino , Pessoa de Meia-Idade , Dados de Sequência Molecular , Polimorfismo de Nucleotídeo Único , Risco , Análise de Sequência de DNA , População Branca/genéticaRESUMO
To identify new risk variants for cutaneous basal cell carcinoma, we performed a genome-wide association study of 16 million SNPs identified through whole-genome sequencing of 457 Icelanders. We imputed genotypes for 41,675 Illumina SNP chip-typed Icelanders and their relatives. In the discovery phase, the strongest signal came from rs78378222[C] (odds ratio (OR) = 2.36, P = 5.2 × 10(-17)), which has a frequency of 0.0192 in the Icelandic population. We then confirmed this association in non-Icelandic samples (OR = 1.75, P = 0.0060; overall OR = 2.16, P = 2.2 × 10(-20)). rs78378222 is in the 3' untranslated region of TP53 and changes the AATAAA polyadenylation signal to AATACA, resulting in impaired 3'-end processing of TP53 mRNA. Investigation of other tumor types identified associations of this SNP with prostate cancer (OR = 1.44, P = 2.4 × 10(-6)), glioma (OR = 2.35, P = 1.0 × 10(-5)) and colorectal adenoma (OR = 1.39, P = 1.6 × 10(-4)). However, we observed no effect for breast cancer, a common Li-Fraumeni syndrome tumor (OR = 1.06, P = 0.57, 95% confidence interval 0.88-1.27).