QTLs of factors of the metabolic syndrome and echocardiographic phenotypes: the hypertension genetic epidemiology network study

<p>Abstract</p> <p>Background</p> <p>In a previous study of the Hypertension Genetic Epidemiology Network (HyperGEN) we have shown that metabolic syndrome (MetS) risk factors were moderately and significantly associated with echocardiographic (ECHO) left ventricular (LV) phenotypes.</p> <p>Methods</p> <p>The study included 1,393 African Americans and 1,133 whites, stratified by type 2 diabetes mellitus (DM) status. Heritabilities of seven factor scores based on the analysis of 15 traits were sufficiently high to pursue QTL discovery in this follow-up study.</p> <p>Results</p> <p>Three of the QTLs discovered relate to combined MetS-ECHO factors of "blood pressure (BP)-LV wall thickness" on chromosome 3 at 225 cM with a 2.8 LOD score, on chromosome 20 at 2.1 cM with a 2.6 LOD score; and for "LV wall thickness" factor on chromosome 16 at 113.5 with a 2.6 LOD score in whites. The remaining QTLs include one for a "body mass index-insulin (BMI-INS)" factor with a LOD score of 3.9 on chromosome 2 located at 64.8 cM; one for the same factor on chromosome 12 at 91.4 cM with a 3.3 LOD score; one for a "BP" factor on chromosome 19 located at 67.8 cM with a 3.0 LOD score. A suggestive linkage was also found for "Lipids-INS" with a 2.7 LOD score located on chromosome 11 at 113.1 cM in African Americans. Of the above QTLs, the one on chromosome 12 for "BMI-INS" is replicated in both ethnicities, (with highest LOD scores in African Americans). In addition, the QTL for "LV wall thickness" on chromosome 16q24.2-q24.3 reached its local maximum LOD score at marker D16S402, which is positioned within the 5th intron of the <it>cadherin 13 </it>gene, implicated in heart and vascular remodeling.</p> <p>Conclusion</p> <p>Our previous study and this follow-up suggest gene loci for some crucial MetS and cardiac geometry risk factors that contribute to the risk of developing heart disease.</p

Genetic polymorphisms of RANTES, IL1-A, MCP-1 and TNF-A genes in patients with prostate cancer

<p>Abstract</p> <p>Background</p> <p>Inflammation has been implicated as an etiological factor in several human cancers, including prostate cancer. Allelic variants of the genes involved in inflammatory pathways are logical candidates as genetic determinants of prostate cancer risk. The purpose of this study was to investigate whether single nucleotide polymorphisms of genes that lead to increased levels of pro-inflammatory cytokines and chemokines are associated with an increased prostate cancer risk.</p> <p>Methods</p> <p>A case-control study design was used to test the association between prostate cancer risk and the polymorphisms <it>TNF-A</it>-308 A/G (rs 1800629), <it>RANTES</it>-403 G/A (rs 2107538), <it>IL1-A</it>-889 C/T (rs 1800587) and <it>MCP-1 </it>2518 G/A (rs 1024611) in 296 patients diagnosed with prostate cancer and in 311 healthy controls from the same area.</p> <p>Results</p> <p>Diagnosis of prostate cancer was significantly associated with <it>TNF-A </it>GA + AA genotype (OR, 1.61; 95% CI, 1.09–2.64) and <it>RANTES </it>GA + AA genotype (OR, 1.44; 95% CI, 1.09–2.38). A alleles in <it>TNF-A </it>and <it>RANTES </it>influenced prostate cancer susceptibility and acted independently of each other in these subjects. No epistatic effect was found for the combination of different polymorphisms studied. Finally, no overall association was found between prostate cancer risk and <it>IL1-A </it>or <it>MCP-1 </it>polymorphisms.</p> <p>Conclusion</p> <p>Our results and previously published findings on genes associated with innate immunity support the hypothesis that polymorphisms in proinflammatory genes may be important in prostate cancer development.</p

Drug abuse among workers in Brazilian regions Uso de drogas entre trabalhadores de regiões do Brasil

OBJECTIVE: Many business organizations in Brazil have adopted drug testing programs in the workplace since 1992. Rehabilitation, rather than layoff and disciplinary measures, has been offered as part of the Brazilian employee assistance programs. The purpose study is to profile drug abuse among company workers of different Brazilian geographical regions. METHODS: Urine samples of 12,700 workers from five geographical regions were tested for the most common illicit drugs of abuse in the country: marijuana, cocaine, and amphetamine. Enzyme multiplied immunoassay technique (EMIT) and gas chromatography coupled with mass spectrometry (GC/MS) were the techniques utilized for urine testing. The distribution of collected urine samples according to geographical regions was: 72.0% southeast, 13.8% northeast, 7.9% south, 5.7% central west and 0.6% north. RESULTS: Of all samples analyzed, 1.8% was found to be positive for drugs: 0.5% from the south region, 1.1% from northeast, 1.2% from central west, 1.3% from north, and 2.2% from southeast. Of these, 59.9% was marijuana, 17.7% cocaine, 14.6% amphetamine, and 7.7% associated drugs. CONCLUSIONS: The distribution of drugs found in the samples shows a regional variation. Marijuana, however, was found in all regions. Cocaine was seen only in central west and southeast regions. Amphetamine was found in northeast, central west, and southeast regions.<br>OBJETIVO: No Brasil, desde 1992, inúmeras empresas comerciais e industriais vêm adotando programas de controle do uso de drogas de abuso no ambiente de trabalho. Nenhuma medida disciplinar ou demissionária é tomada sem antes se tentar a reabilitação do funcionário. O objetivo do estudo é apresentar o perfil do uso de drogas de abuso entre trabalhadores de diferentes empresas brasileiras. MÉTODOS: Amostras de urina de 12.700 indivíduos provenientes das cinco regiões geográficas brasileiras foram analisadas visando à detecção das principais drogas de abuso utilizadas no País: cocaína, maconha e anfetamina. A técnica de enzimaimunoensaio (EMIT) foi usada como análise de triagem para as substâncias pesquisadas. A confirmação dos resultados foi realizada pela espectrometria de massa associada à cromatografia em fase gasosa (GC/MS). A distribuição das amostras de acordo com as regiões geográficas foi: 72,0% foram coletadas na região Sudeste, 13,8% no Nordeste, 7,9% originaram-se na região Sul, 5,7% no Centro-Oeste e 0,6% na região Norte. RESULTADOS: Os resultados obtidos foram: 1,8% de todas as amostras analisadas foram positivas para a presença de drogas de abuso, sendo que 0,5% eram provenientes da região Sul, 1,1% da região Nordeste, 1,2% do Centro-Oeste, 1,3% da região Norte e 2,2% do Sudeste. A freqüência com que as diferentes drogas foram encontradas foi: 59,9% para maconha, 17,7% para cocaína, 14,6% para anfetamina e 7,7% para drogas em associação. CONCLUSÕES: A distribuição das drogas de abuso detectadas apresentou variações regionais. A maconha foi encontrada nas amostras de todas as regiões; a cocaína estava presente somente em amostras oriundas das regiões Centro-Oeste e Sudeste. A anfetamina foi detectada nas amostras provenientes do Nordeste, Centro-Oeste e Sudeste