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- Surendran, Praveen, et al.
(författare)
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Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals
- 2020
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Ingår i: Nature Genetics. - : Nature Publishing Group. - 1061-4036 .- 1546-1718. ; 52:12, s. 1314-1332
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Tidskriftsartikel (refereegranskat)abstract
- Genetic studies of blood pressure (BP) to date have mainly analyzed common variants (minor allele frequency > 0.05). In a meta-analysis of up to similar to 1.3 million participants, we discovered 106 new BP-associated genomic regions and 87 rare (minor allele frequency <= 0.01) variant BP associations (P < 5 x 10(-8)), of which 32 were in new BP-associated loci and 55 were independent BP-associated single-nucleotide variants within known BP-associated regions. Average effects of rare variants (44% coding) were similar to 8 times larger than common variant effects and indicate potential candidate causal genes at new and known loci (for example, GATA5 and PLCB3). BP-associated variants (including rare and common) were enriched in regions of active chromatin in fetal tissues, potentially linking fetal development with BP regulation in later life. Multivariable Mendelian randomization suggested possible inverse effects of elevated systolic and diastolic BP on large artery stroke. Our study demonstrates the utility of rare-variant analyses for identifying candidate genes and the results highlight potential therapeutic targets.
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| 2. |
- Marker, Jeffery
(författare)
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Forests, Functions, and Food Webs : Riparian processes through an ecological and molecular lens
- 2023
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Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
- Riparian systems are critical ecological interfaces that have a significant impact on the surrounding aquatic and terrestrial ecosystems. The riparian and surrounding systems have significant roles in regulating energy flow, providing essential nutrients, and supporting unique species, making them important for ecosystem function. Both the aquatic and terrestrial ecosystems are reliant on the reciprocal exchange of energy subsides to maintain productive and stable food webs. Retention of forested buffers along streams during tree felling operations is a common management technique used to protect aquatic resources and conserve the surrounding ecosystem processes. Measuring the effects of forestry practices on the function and food webs of riparian predators is vital to making forest management decisions that strengthen and protect these fundamental services. Insight into predator function and predator-prey interactions using powerful molecular techniques can further the understanding of these complex systems and help to mitigate the effects of forestry practices.This thesis explores the functional diversity, food webs, and predator-prey interactions in riparian systems impacted by forestry felling practices. I have studied the effects of clear-cutting and forested buffer zones on riparian functional diversity through the assessment of functional richness and redundancy of spider and plant communities. In addition, I have both validated and used stable isotope analysis and DNA metabarcoding to investigate the primary food sources and prey choices of riparian predators. Riparian buffer size had no direct effect on the functional richness or redundancy of riparian spiders and vascular plants. However, riparian buffer variables such as canopy closure, buffer density, and vegetation coverage did have direct impacts on both spider and plant function. Most riparian spiders and brown trout received a significant majority of their food source from the terrestrial environment and the presence or absence of a riparian buffer did not effect this outcome. However, web-weaving spiders in unbuffered systems were more likely to exploit aquatic resources as a primary food source. Overall, the responses of predator function and food webs to forestry practice are site-specific.
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