Heart failure and endothelial nitric oxide synthase G894T gene polymorphism frequency variations within ancestries.

The G894T polymorphism in endothelial nitric oxide synthase enzyme gene plays an important role in heart failure (HF) and its frequency varies among populations. We investigated this association in highly admixed samples in terms of ancestry. The cohort included 210 HF patients and 106 healthy individuals. Self-reported race and NYHA class were analyzed for HF patients. G894T polymorphism was analyzed by polymerase chain reaction (PCR) and by restriction fragment length polymorphism technique. Ancestry was estimated using a PCR reaction containing 46 autosomal ancestry informative markers and an analysis by capillary electrophoresis. The GG homozygous genotype had a higher frequency in HF patients (63.8%) than in healthy individuals (48.1%), showing an increased chance (odds ratio 1.90, 95% confidence interval 1.18-3.05). The ancestry profiles in patients and controls were similar, with a major European contribution (57.1% and 63.2%), followed by African (30.2% and 24.0%) and Native American (12.7% and 12.8%), without a significant difference between both samples (p = 0.28). The GG genotype is associated to HF prognosis, and this association remains present in highly admixed sample groups.

Comparison of archaeal and bacterial communities in two sponge species and seawater from an Indonesian coral reef environment.

Most existing coral reef studies have focused on a single biotope and a single domain (Archaea or Bacteria). Few coral reef studies have explored the archaeal and bacterial community simultaneously. In this study, we compare the diversity and composition of archaeal and bacterial communities in seawater and two closely related sponge species (Stylissa carteri and Stylissa massa) in the Berau reef system, Indonesia. A 16S rRNA gene barcoded pyrosequencing approach was used to test to what extent seawater, S. carteri and S. massa host compositionally distinct communities of Archaea and Bacteria. Proteobacteria dominated the bacterial communities of all three studied biotopes whereas Euryarchaeota was the most abundant archaeal phylum in seawater and Crenarchaeota the most abundant archaeal phylum in both Stylissa species. Biotopes explained 56% and 53% of the variation in archaeal and bacterial composition respectively and there was significant congruence between the composition of archaeal and bacterial communities. These results suggest that the processes that drive bacterial composition within the studied biotopes may be fundamentally similar to those that drive archaeal composition.

Jellyfish-associated bacterial communities and bacterioplankton in Indonesian Marine lakes.

In the present study, we compared communities of bacteria in two jellyfish species (the 'golden' jellyfish Mastigias cf.papua and the box jellyfish Tripedalia cf.cystophora) and water in three marine lakes located in the Berau region of northeastern Borneo, Indonesia. Jellyfish-associated bacterial communities were compositionally distinct and less diverse than bacterioplankton communities. Alphaproteobacteria, Gammaproteobacteria, Synechococcophycidae and Flavobacteriia were the most abundant classes in water. Jellyfish-associated bacterial communities were dominated by OTUs assigned to the Gammaproteobacteria (family Endozoicimonaceae), Mollicutes, Spirochaetes and Alphaproteobacteria (orders Kiloniellales and Rhodobacterales). Mollicutes were mainly restricted to Mastigias whereas Spirochaetes and the order Kiloniellales were most abundant in Tripedalia hosts. The most abundant OTU overall in jellyfish hosts was assigned to the family Endozoicimonaceae and was highly similar to organisms in Genbank obtained from various hosts including an octocoral, bivalve and fish species. Other abundant OTUs included an OTU assigned to the order Entomoplasmatales and mainly found in Mastigias hosts and OTUs assigned to the Spirochaetes and order Kiloniellales and mainly found in Tripedalia hosts. The low sequence similarity of the Entomoplasmatales OTU to sequences in Genbank suggests that it may be a novel lineage inhabiting Mastigias and possibly restricted to marine lakes.

APOE and LDLR Gene Polymorphisms and Dyslipidemia Tracking. Rio de Janeiro Study.

BACKGROUND: Studies show an association between changes in apolipoprotein E (ApoE) and LDLR receptor with the occurrence of dyslipidemia. OBJECTIVES: To investigate the association between polymorphisms of the APOE (ε2, ε3, ε4) and LDLR (A370T) genes with the persistence of abnormal serum lipid levels in young individuals followed up for 17 years in the Rio de Janeiro Study. METHODS: The study included 56 individuals (35 males) who underwent three assessments at different ages: A1 (mean age 13.30 ± 1.53 years), A2 (22.09 ± 1.91 years) and A3 (31.23 ± 1.99 years). Clinical evaluation with measurement of blood pressure (BP) and body mass index (BMI) was conducted at all three assessments. Measurement of waist circumference (WC) and serum lipids, and analysis of genetic polymorphisms by PCR-RFLP were performed at A2 and A3. Based on dyslipidemia tracking, three groups were established: 0 (no abnormal lipid value at A2 and A3), 1 (up to one abnormal lipid value at A2 or A3) and 2 (one or more abnormal lipid values at A2 and A3). RESULTS: Compared with groups 0 and 1, group 2 presented higher mean values of BP, BMI, WC, LDL-c and TG (p < 0.01) and lower mean values of HDL-c (p = 0.001). Across the assessments, all individuals with APOE genotypes ε2/ε4 and ε4/ε4 maintained at least one abnormal lipid variable, whereas those with genotype ε2/ε3 did not show abnormal values (χ2 = 16.848, p = 0.032). For the LDLR genotypes, there was no significant difference among the groups. CONCLUSIONS: APOE gene polymorphisms were associated with dyslipidemia in young individuals followed up longitudinally from childhood.

Composition and Predictive Functional Analysis of Bacterial Communities in Seawater, Sediment and Sponges in the Spermonde Archipelago, Indonesia.

In this study, we used a 16S rRNA gene barcoded pyrosequencing approach to sample bacterial communities from six biotopes, namely, seawater, sediment and four sponge species (Stylissa carteri, Stylissa massa, Xestospongia testudinaria and Hyrtios erectus) inhabiting coral reefs of the Spermonde Archipelago, South Sulawesi, Indonesia. Samples were collected along a pronounced onshore to offshore environmental gradient. Our goals were to (1) compare higher taxon abundance among biotopes, (2) test to what extent variation in bacterial composition can be explained by the biotope versus environment, (3) identify dominant (>300 sequences) bacterial operational taxonomic units (OTUs) and their closest known relatives and (4) assign putative functions to the sponge bacterial communities using a recently developed predictive metagenomic approach. We observed marked differences in bacterial composition and the relative abundance of the most abundant phyla, classes and orders among sponge species, seawater and sediment. Although all biotopes housed compositionally distinct bacterial communities, there were three prominent clusters. These included (1) both Stylissa species and seawater, (2) X. testudinaria and H. erectus and (3) sediment. Bacterial communities sampled from the same biotope, but different environments (based on proximity to the coast) were much more similar than bacterial communities from different biotopes in the same environment. The biotope thus appears to be a much more important structuring force than the surrounding environment. There were concomitant differences in the predicted counts of KEGG orthologs (KOs) suggesting that bacterial communities housed in different sponge species, sediment and seawater perform distinct functions. In particular, the bacterial communities of both Stylissa species were predicted to be enriched for KOs related to chemotaxis, nitrification and denitrification whereas bacterial communities in X. testudinaria and H. erectus were predicted to be enriched for KOs related to the toxin-antitoxin (TA) system, nutrient starvation and heavy metal export.

APOE and LDLR Gene Polymorphisms and Dyslipidemia Tracking. Rio de Janeiro Study / Polimorfismos dos Genes APOE e RLDL e Tracking de Dislipidemia em Jovens. Estudo do Rio de Janeiro

Background: Studies show an association between changes in apolipoprotein E (ApoE) and LDLR receptor with the occurrence of dyslipidemia. Objectives: To investigate the association between polymorphisms of the APOE (ε2, ε3, ε4) and LDLR (A370T) genes with the persistence of abnormal serum lipid levels in young individuals followed up for 17 years in the Rio de Janeiro Study. Methods: The study included 56 individuals (35 males) who underwent three assessments at different ages: A1 (mean age 13.30 ± 1.53 years), A2 (22.09 ± 1.91 years) and A3 (31.23 ± 1.99 years). Clinical evaluation with measurement of blood pressure (BP) and body mass index (BMI) was conducted at all three assessments. Measurement of waist circumference (WC) and serum lipids, and analysis of genetic polymorphisms by PCR-RFLP were performed at A2 and A3. Based on dyslipidemia tracking, three groups were established: 0 (no abnormal lipid value at A2 and A3), 1 (up to one abnormal lipid value at A2 or A3) and 2 (one or more abnormal lipid values at A2 and A3). Results: Compared with groups 0 and 1, group 2 presented higher mean values of BP, BMI, WC, LDL-c and TG (p < 0.01) and lower mean values of HDL-c (p = 0.001). Across the assessments, all individuals with APOE genotypes ε2/ε4 and ε4/ε4 maintained at least one abnormal lipid variable, whereas those with genotype ε2/ε3 did not show abnormal values (χ2 = 16.848, p = 0.032). For the LDLR genotypes, there was no significant difference among the groups. Conclusions: APOE gene polymorphisms were associated with dyslipidemia in young individuals followed up longitudinally from childhood. .

Fundamento: Estudos demonstram a associação de alterações da apolipoproteína E (APOE) e do receptor da RLDL com a ocorrência de dislipidemia. Objetivos: Investigar a associação entre polimorfismos dos genes da APOE (APOE - ε2, ε3, ε4) e do receptor da LDL (RLDL - A370T) com a persistência de alterações dos níveis lipídicos séricos em jovens acompanhados há 17 anos no Estudo do Rio de Janeiro. Métodos: Foram estudados 56 indivíduos (35 masculinos) em três avaliações realizadas em idades distintas: A1 – média de idade: 13,30 ± 1,53 anos; A2 – média de idade: 22,09±1,91 anos e A3 – média de idade: 31,23±1,99 anos. Nas três avaliações foram determinados a pressão arterial (PA) e o índice de massa corporal (IMC). Em A2 e A3 foram obtidos a circunferência abdominal (CA) e os lípides séricos, e analisados os polimorfismos genéticos por PCR-RFLP. Com base no tracking de dislipidemia, três grupos foram constituídos: 0 (nenhum lípide alterado em A2 e A3), 1 (até um lípide alterado em A2 ou A3) e 2 (um ou mais lípides alterados em A2 e A3). Resultados: Em comparação aos grupos 0 e 1, o grupo 2 apresentou maiores médias de PA, IMC, CA, LDL-c e TG (p < 0,01) e menor média de HDL-c (p = 0,001) que os grupos 0 e 1. Todos os indivíduos com genótipo APOE ε2/ε4 e ε4/ε4 mantiveram durante as avaliações pelo menos um lípide alterado, enquanto que aqueles com genótipo ε2/ε3 não apresentaram alterações (χ2=16,848, p = 0,032). Para os genótipos RLDL não houve diferença significativa entre os grupos. Conclusões: O polimorfismo do gene APOE se associou à presença de dislipidemia em indivíduos jovens em acompanhamento longitudinal desde a infância. .

Ser49Gly polymorphism in the ß-adrenergic receptor 1 gene in a population sample from Rio de Janeiro state, Brazil, stratified by self-identified skin color and genetic ancestry.

Cardiovascular diseases (CVD) have the highest worldwide mortality rate of any type of disease. In recent years, genetic research regarding CVD has been conducted using association studies, in which the presence of a genetic polymorphism associated with a specific cell signaling pathway in a lower or in a higher frequency among patients may be interpreted as a possible causal factor. Genetic polymorphisms that occur in the ß-adrenergic receptor 1 (ß-ADR1) can result in significant changes in its function that may result in physiopathologies. Ambiguous categorizations, such as skin color and self-reported ethnicity have been used in pharmacogenetic studies as phenotypic proxies for ancestry; however, admixed populations present a particular challenge to the effectiveness of this approach. The main objective of the present study was to estimate the diversity and the frequency of the Ser49Gly polymorphism of the ß-ADR1 gene in a sample of 188 male individuals from the population of Rio de Janeiro. The Ser49Gly frequencies were analyzed by two forms of sample stratification: The phenotypic criterion of black or non-black skin color, and African or non-African ancestry, defined using Y-chromosome single nucleotide polymorphisms and autosomal indel markers. These results were used to evaluate whether marker-based ancestry criteria and/or skin color were associated with the frequency of the Ser49Gly polymorphisms in the heterogeneous Rio de Janeiro/Brazilian population. The DNA fragments of interest were amplified by polymerase chain reaction with specific primers for the Ser49Gly marker, and genotyping reactions were performed by restriction with the enzyme Eco0109I. Heterozygosity values ranging from 0.25 to 0.50 and 0.20 to 0.41 were found for the groups stratified by ancestry and skin color, respectively. Using the Hardy-Weinberg equilibrium at the ser49Gly marker, it was found that there was no significant deviation in the genotype distribution of the whole Rio de Janeiro sample or the stratified sample. Analysis of the allelic distribution in the Rio de Janeiro population sample revealed frequencies of 80.30 and 19.70% for the wild-type (Ser49) and mutated (Gly49) alleles, respectively. Significant differences were observed in the allele frequencies of the Ser49Gly marker between the self-defined black and non-black phenotype, and the African and non-African descendant genotype population samples. A significant difference was also observed between blacks and African-descendant individuals, with a lesser degree of genetic differentiation. The results presented in the present study suggest that the Ser49Gly marker has a distribution that is influenced by an ancestral component, due to the increased prevalence of the Gly49 polymorphism in the black and African descendant populations of the Rio de Janeiro state. This evidence, in combination with clinical studies, may contribute to a detailed analysis of the pattern of susceptibility to CVD involved in ß-ADR1 receptor mechanism failure.

Composition and predicted functional ecology of mussel-associated bacteria in Indonesian marine lakes.

In the present study, we sampled bacterial communities associated with mussels inhabiting two distinct coastal marine ecosystems in Kalimantan, Indonesia, namely, marine lakes and coastal mangroves. We used 16S rRNA gene pyrosequencing and predicted metagenomic analysis to compare microbial composition and function. Marine lakes are small landlocked bodies of seawater isolated to varying degrees from the open sea environment. They contain numerous endemic taxa and represent natural laboratories of speciation. Our primary goals were to (1) use BLAST search to identify closely related organisms to dominant bacterial OTUs in our mussel dataset and (2) to compare bacterial communities and enrichment in the predicted bacterial metagenome among lakes. Our sequencing effort yielded 3553 OTUs belonging to 44 phyla, 99 classes and 121 orders. Mussels in the largest marine lake (Kakaban) and the coastal mangrove habitat were dominated by bacteria belonging to the phylum Proteobacteria whereas smaller lakes, located on the island of Maratua, were dominated by bacteria belonging to the phyla Firmicutes and Tenericutes. The single most abundant OTU overall was assigned to the genus Mycoplasma. There were several significant differences among locations with respect to metabolic pathways. These included enrichment of xenobiotic biodegradation pathways in the largest marine lake and coastal mangrove. These locations were also the most enriched with respect to nitrogen metabolism. The presence of genes related to isoquinoline alkaloids, polyketides, hydrolases, mono and dioxygenases in the predicted analysis of functional pathways is an indication that the bacterial communities of Brachidontes mussels may be potentially important sources of new marine medicines and enzymes of industrial interest. Future work should focus on measuring how mussel microbial communities influence nutrient dynamics within the marine lake environment and isolating microbes with potential biotechnological applications.

The putative functional ecology and distribution of archaeal communities in sponges, sediment and seawater in a coral reef environment.

Archaea play crucial roles in a number of key ecological processes including nitrification and methanogenesis. Although several studies have been conducted on these organisms, the roles and dynamics of coral reef archaeal communities are still poorly understood, particularly in host and nonhost biotopes and in high (HMA) and low microbial abundance (LMA) sponges. Here, archaeal communities detected in six distinct biotopes, namely, sediment, seawater and four different sponge species Stylissa carteri, Stylissa massa, Xestospongia testudinaria and Hyrtios erectus from the Spermonde Archipelago, SW Sulawesi, Indonesia were investigated using 454-pyrosequencing of 16S rRNA genes (OTU cut-off 97%). Archaeal communities from sediment and sponges were dominated by Crenarchaeota, while the seawater community was dominated by Euryarchaeota. The biotope explained almost 75% of the variation in archaeal composition, with clear separation between microbial assemblages from sediment, X. testudinaria and H. erectus (HMA). In contrast, samples from seawater and both Stylissa species (LMA) showed considerable overlap in the ordination and, furthermore, shared most abundant OTUs with the exception of a single dominant OTU specifically enriched in both Stylissa species. Predicted functional gene content in archaeal assemblages also revealed significant differences among biotopes. Different ammonia assimilation strategies were exhibited by the archaeal communities: X. testudinaria, H. erectus and sediment archaeal communities were enriched for glutamate dehydrogenase with mixed specificity (NAD(P)(+) ) pathways, while archaeal planktonic communities were enriched for specific glutamate dehydrogenase (NADP(+) ) and glutamate synthase pathways. Archaeal communities in Stylissa had intermediate levels of enrichment. Our results indicate that archaeal communities in different biotopes have distinct ecophysiological roles.