The association of GSTM1 and CYP1A1 polymorphisms and oral and pharyngeal cancers was assessed through a metaanalysis of published case-control studies and a pooled analysis of both published and unpublished case-control studies from the Genetic Susceptibility to Environmental Carcinogens database (http://www.upci.upmc.edu/research/ccps/ccontrol/ index.html). Thirty publications used in the meta-analysis included a total of 7783 subjects (3177 cases and 4606 controls); 21 datasets, 9397 subjects (3130 cases and 6267 controls) were included in the pooled analysis. The GSTM1 deletion was 2-fold more likely to occur in African American and African cases than controls (odds ratio: 1.7, 95% confidence interval: 0.9-3.3), although this was not observed among whites (odds ratio: 1.0, 95% confidence interval: 0.9-1.1). The metaanalysis and pooled analysis showed a significant association between oral and pharyngeal cancer and the CYP1A1 MspI homozygous variant (meta-OR m2/m2 : 1.9, 95% confidence interval: 1.4-2.7; Pooled OR m2m2 : 2.0, 95% confidence interval:1.3-3.1; OR m1m2 or [infi]m2m2 : 1.3, 95% confidence interval: 1.1-1.6). The association was present for the CYP1A1 (exon 7) polymorphism (OR Val/Val : 2.2, 95% confidence interval: 1.1-4.5) in ever smokers. A joint effect was observed for GSTM1 homozygous deletion and the CYP1A1 m1m2 variant on cancer risk. Our findings suggest that tobacco use and genetic factors play a significant role in oral and pharyngeal cancer. Genet Med 2008:10(6):369-384. Key Words: GSTM1, CYP1A1, oral and pharyngeal cancers, epidemiology, meta-analysis and pooled analysis Glutathione S-transferasesThe Glutathione S-transferases (GSTs) comprise a family of phase II detoxifying enzymes that catalyze a large number of reactions taking place between the cytosolic glutathione and compounds containing an electrophilic center. 1 These enzymes are involved in the elimination of xenobiotics and endogenous products of oxidative stress formed as a result of aerobic metabolism, exposure to ionizing radiation or any other process that causes cellular damage. Substrates for GSTs include acetaldehyde and several polyaromatic hydrocarbons (PAHs) found in tobacco smoke. The main steps for GST catalysis includes the formation of a complex with the cytosolic glutathione and the ionization of the sulfydryl group of this enzyme bound to glutathione to yield a highly reactive thiolate anion through hydrogen bonding with the adjacent hydroxyl
Iron deficiency anemia is the principal nutritional dearth in the world, and it especially affects children and pregnant women in developing countries. This paper presents a survey of the literature in this area, with the aim of providing a brief overview regarding the occurrence of iron deficiency anemia in Brazil. The article describes the etiology of the disease, the risk groups, the high prevalence of anemia in several areas of Brazil, and also the consequences of iron deficiency in children. The paper also shows some ways to control iron deficiency anemia and some intervention programs applied in Brazilian cities for curing and/or preventing this disease. The article concludes by emphasizing the need to establish strategies and treatments in our country that are based on a policy that brings together not only governmental administration but also all the community.
erika@famerp.br SUMMARY Objective. Considering that studies about the frequencies of phenotypic features of Down syndrome (DS) in the Brazilian population with large ethnic variability are scarce in literature, this study analyzed clinical and demographic characteristics of DS children from the Southeastern region of Brazil. MethOds. Sixty-two DS children with free trisomy 21 were evaluated by physical examination using reference values that considered the children´s gender and age at their presentation. Data about clinical complications were collected by retrospective analysis of the children's medical records and/ or information supplied by their mothers. Statistical analysis was performed using Likelihood Ratio Test, with significance level less or equal to 5%. Results. Clinical features observed in more than 90% of the individuals were flat facial profile, brachycephaly, slanted palpebral fissures, hypotonia at birth and flat nasal bridge. Congenital heart disease was present in 56.5% of the cases, verbal language acquisition disorder in 87%, and global delayed development in 77.8%. cOnclusiOn. The comparison between our data and related literature showed a great variability of the phenotype features frequencies of DS among studies. Besides environmental factors, this can reflect individual as well as population characteristics.
These preliminary results suggest that p53 mutations are quite frequent in children with Burkitt's lymphoma and may play a role in lymphoma genesis or disease progression.
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