13 research outputs found

    Pleiotropy among common genetic loci identified for cardiometabolic disorders and C-reactive protein.

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    Pleiotropic genetic variants have independent effects on different phenotypes. C-reactive protein (CRP) is associated with several cardiometabolic phenotypes. Shared genetic backgrounds may partially underlie these associations. We conducted a genome-wide analysis to identify the shared genetic background of inflammation and cardiometabolic phenotypes using published genome-wide association studies (GWAS). We also evaluated whether the pleiotropic effects of such loci were biological or mediated in nature. First, we examined whether 283 common variants identified for 10 cardiometabolic phenotypes in GWAS are associated with CRP level. Second, we tested whether 18 variants identified for serum CRP are associated with 10 cardiometabolic phenotypes. We used a Bonferroni corrected p-value of 1.1×10-04 (0.05/463) as a threshold of significance. We evaluated the independent pleiotropic effect on both phenotypes using individual level data from the Women Genome Health Study. Evaluating the genetic overlap between inflammation and cardiometabolic phenotypes, we found 13 pleiotropic regions. Additional analyses showed that 6 regions (APOC1, HNF1A, IL6R, PPP1R3B, HNF4A and IL1F10) appeared to have a pleiotropic effect on CRP independent of the effects on the cardiometabolic phenotypes. These included loci where individuals carrying the risk allele for CRP encounter higher lipid levels and risk of type 2 diabetes. In addition, 5 regions (GCKR, PABPC4, BCL7B, FTO and TMEM18) had an effect on CRP largely mediated through the cardiometabolic phenotypes. In conclusion, our results show genetic pleiotropy among inflammation and cardiometabolic phenotypes. In addition to reverse causation, our data suggests that pleiotropic genetic variants partially underlie the association between CRP and cardiometabolic phenotypes

    On the influence of vulnerable marine ecosystem habitats on peracarid crustacean assemblages in the Northwest Atlantic Fisheries Organisation regulatory area

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    Vulnerable marine ecosystems (VMEs) are considered hotspots of biodiversity and ecosystem functioning in the deep sea, but are also characterised by a high vulnerability to disturbance and a low recovery potential. Since 2006, a series of United Nations General Assembly (UNGA) resolutions have been developed, attempting to ensure the protection of VMEs in international waters. In the Northwest Atlantic Fisheries Organisation (NAFO) Regulatory Area, large areas of seabed have been closed to bottom-contact fishing to protect VMEs. However, knowledge of the influence of VME-indicator taxa on macrofaunal assemblages, and the appropriateness of current fishery closures for protecting macrofaunal biodiversity in this area is limited. Here we investigate relationships between the prevalence of VME-indicator taxa [poriferans (sponges), gorgonian corals, and pennatulaceans (sea pens)] and an extensive suite of peracarid crustacean biodiversity metrics in the NAFO Regulatory Area. We also examine whether the current NAFO VME closures protect areas of significantly elevated peracarid diversity. Of the VME-indicator taxa analysed, poriferans were found to have by far the greatest influence over peracarid assemblages. Assemblage structure was altered, and peracarid abundance, biomass, richness, diversity, and variability were enhanced in areas of elevated poriferan biomass, whilst assemblage evenness was slightly depressed in these areas. These findings reaffirm the perception of poriferans as crucial components of VMEs. In contrast, gorgonian coral density had little influence over the faunal assemblages investigated, perhaps reflecting their relatively low prevalence in the study area. Similarly, pennatulaceans were found to influence peracarid assemblages only weakly. This too may reflect a moderately low density of Pennatulacea in the study area. Our results highlight that the application of taxon distribution model outputs to ecological investigations and management decisions in data-limited environments should be treated with caution. Finally, our results indicate that the current system of fishery closures in the NAFO Regulatory Area may not be optimal in terms of providing adequate protection to VMEs against the impacts of bottom trawling

    Genetic and clinical basis for two distinct subtypes of primary Sjögren's syndrome

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    Phylogeny of cetrarioid lichens (Parmeliaceae) inferred from ITS and beta-tubulin sequences, morphology, anatomy and secondary chemistry.

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    Phylogenetic relationships within the family Parmeliaceae (lichenized ascomycetes) with emphasis on the heterogeneous group of cetrarioid lichens are reconstructed. The results are based on cladistic analyses of DNA-sequences, morphological and chemical data. Almost all currently recognized cetrarioid genera were included in the analyses together with parmelioid and alectorioid members of the presumably monophyletic family Parmeliaceae. We tried to sample taxonomic diversity of the family as widely as possible. The ITS1-5.8S-ITS2 region of the rDNA and a partial beta-tubulin gene from 126 samples representing 82 species were analysed. Cetrarioid lichens were identified as a monophyletic group, supported by both ITS and beta-tubulin characters. This group was reanalysed using 47 morphological, anatomical and secondary chemistry characters combined with the DNA data matrix. ITS and beta-tubulin sequences provide congruent information, and a clear correlation between DNA-data and conidial shape is observed. The current taxonomy of the cetrarioid lichens is discussed and compared with the phylogenetic trees obtained here. A comprehensive study of the phylogeography of some bipolar or subcosmopolitic species with representatives from both hemispheres was performed. Cetraria aculeata is the only taxon where correlation between DNA-data and geographic origin is observed

    Phylogeny of cetrarioid lichens (Parmeliaceae) inferred from ITS and b-tubulin sequences, morphology, anatomy and secondary chemistry

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    Draft heidelberg collaboration statement of purpose (22/9/2000)

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