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Lise Lotte N. Husemoen Tea Skaaby Torben J?rgensen Jacob P. Thyssen Michael Meldgaard Pal B. Szecsi Steen Stender Jeanne Duus Johansen Allan Linneberg 《PloS one》2013,8(12)
Background
Common loss-of-function mutations in the filaggrin gene (FLG) are a major predisposing risk factor for atopic disease due to reduced epidermal filaggrin protein levels. We previously observed an association between these mutations and type 2 diabetes and hypothesized that an inherited impairment of skin barrier functions could facilitate low-grade inflammation and hence increase the risk of diabetes and cardiovascular disease. We examined the association between loss-of-function mutations in FLG and diabetes, stroke, ischemic heart disease (IHD), and all-cause mortality in the general population.Methods
The R501X and 2282del4 loss-of function mutations in FLG were genotyped in four Danish study populations including a total of 13373 adults aged 15-77 years. Two of the studies also genotyped the R2447X mutation. By linkage to Danish national central registers we obtained information for all participants on dates of diagnoses of diabetes, stroke, and IHD, as well as all-cause mortality. Data were analyzed by Cox proportional hazard models and combined by fixed effect meta-analyses.Results
In meta-analyses combining the results from the four individual studies, carriage of loss-of-function mutations in FLG was not associated with incident diabetes (hazard ratio (HR) (95% confidence intervals (CI)) = 0.95 (0.73, 1.23), stroke (HR (95% CI) = 1.27 (0.97, 1.65), ischemic heart disease (HR (95%CI) = 0.92 (0.71, 1.19), and all-cause mortality (HR (95%CI) = 1.02 (0.83, 1.25)). Similar results were obtained when including prevalent cases in logistic regression models.Conclusion
Our results suggest that loss-of-function mutations in FLG are not associated with type 2 diabetes, cardiovascular disease, and all-cause mortality. However, larger studies with longer follow-up are needed to exclude any associations. 相似文献214.
Yinqiu Ji Tea Huotari Tomas Roslin Niels Martin Schmidt Jiaxin Wang Douglas W. Yu Otso Ovaskainen 《Molecular ecology resources》2020,20(1):256-267
The accurate quantification of eukaryotic species abundances from bulk samples remains a key challenge for community ecology and environmental biomonitoring. We resolve this challenge by combining shotgun sequencing, mapping to reference DNA barcodes or to mitogenomes, and three correction factors: (a) a percent‐coverage threshold to filter out false positives, (b) an internal‐standard DNA spike‐in to correct for stochasticity during sequencing, and (c) technical replicates to correct for stochasticity across sequencing runs. The SPIKEPIPE pipeline achieves a strikingly high accuracy of intraspecific abundance estimates (in terms of DNA mass) from samples of known composition (mapping to barcodes R2 = .93, mitogenomes R2 = .95) and a high repeatability across environmental‐sample replicates (barcodes R2 = .94, mitogenomes R2 = .93). As proof of concept, we sequence arthropod samples from the High Arctic, systematically collected over 17 years, detecting changes in species richness, species‐specific abundances, and phenology. SPIKEPIPE provides cost‐efficient and reliable quantification of eukaryotic communities. 相似文献
215.
Two gastropod assemblages from the Carnian (Upper Triassic) Raibl Beds of the Mežica region (Karavanke Mountains, Slovenia) are described. The almost monospecific, older assemblage from Mežica Mine was found as a thin shell pavement in the clastic sequence. This association apparently originated during a period of reduced sedimentation. The younger assemblage from Helena Creek was found at the upper surface of an oolitic and oncoidal limestone and represents a more diversified fauna of a crinoid/coelenterate/polychaete meadow. Together, both assemblages contain 11 gastropod species. Five of them are left in open nomenclature, two are known from other localities in the Alps, and the remaining four are new. The new species are Sloeudaronia karavankensis (Skeneidae), Helenostylina mezicaensis (Coelostylinidae), Ampezzopleura slovenica and Striazyga crnaensis (Zygopleuridae). Two new genera, Sloeudaronia (Skeneidae) and Helenostylina (Coelostylinidae), are described.An erratum to this article can be found at 相似文献
216.
Determinants of distribution and abundance in the clouded apollo butterfly: a landscape ecological approach 总被引:7,自引:0,他引:7
Miska Luoto Mikko Kuussaari Hannu Rita Jere Salminen Tea von Bonsdorff 《Ecography》2001,24(5):601-617
Recent studies on the determinants of distribution and abundance of animals at landscape level have emphasized the usefulness of the metapopulation approach, in which patch area and habitat connectivity have often proved to explain satisfactorily existing patch occupancy patterns. A different approach is needed to study the common situation in which suitable habitat is difficult to determine or does not occur in well‐defined habitat patches. We applied a landscape ecological approach to study the determinants of distribution and abundance of the threatened clouded apollo Parnassius mnemosyne butterfly within an area of 6 km2 of agricultural landscape in south‐western Finland. The relative role of 24 environmental variables potentially affecting the distribution and abundance of the butterfly was studied using a spatial grid system with 2408 grid squares of 0.25 ha, of which 349 were occupied by the clouded apollo. Both the probability of butterfly presence and abundance in a 0.25 ha square increased with the presence of the larval host plant Corydalis solida the cover of semi‐natural grassland, the amount of solar radiation and spalial autocorrelation in butterfly occurrence. Additionally, butterfly abundance increased with overall mean patch size and decreased with maximum slope angle and wind speed. Two advantages of the employment of a spatial grid system included the avoidance of a subjective definition of suitable habitat patches and an evaluation of the relative significance of different components of habitat quality at the same time with habitat availability and connectivity. The large variation in habitat quality was influenced by the abundance of the larval host plant and adult nectar sources but also by climatological. topographical and structural factors. The application of a spatial grid system as used here has potential for a wide use in studies on landscape‐level distribution and abundance patterns in species with complex habitat requirements and habitat availability patterns. 相似文献
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Aleš Snoj Andrej Razpet Tea Tomljanović Tomislav Treer Simona Sušnik 《Conservation Genetics》2007,8(5):1213-1217
Genetic founder effects of a historical translocation (1965; app. 12 generations ago) of endangered softmouth trout from the
only remaining indigenous population to an adjacent uninhabited river were investigated.
A comparison of 15 microsatellites from contemporary samples in both the source and re-established populations indicated a
very low level of genetic diversity within the two populations. Furthermore, considerable differences in estimates of variability
and effective population sizes were detected between populations, but no recent bottlenecks were evident. Our data suggest
that the re-established population has lost variation due to genetic drift associated with founder effects following the translocation.
Accordingly, in relation to management, we suggest that the re-established population could serve as a secondary source of
individuals to buffer possible extinction due to demographic events. Finally, conservation initiatives to enhance the census
population size and increase levels of variability in the re-established population are proposed.
Electronic Supplementary Material
Supplementary material is available in the online version of this article at and is accessible for authorized users. 相似文献