| 1. |
- Laisk, Triin, et al.
(författare)
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The genetic architecture of sporadic and multiple consecutive miscarriage.
- 2020
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Ingår i: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 11:1
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Tidskriftsartikel (refereegranskat)abstract
- Miscarriage is a common, complex trait affecting ~15% of clinically confirmed pregnancies. Here we present the results of large-scale genetic association analyses with 69,054 cases from five different ancestries for sporadic miscarriage, 750 cases of European ancestry for multiple (≥3) consecutive miscarriage, and up to 359,469 female controls. We identify one genome-wide significant association (rs146350366, minor allele frequency (MAF) 1.2%, P = 3.2 × 10-8, odds ratio (OR) = 1.4) for sporadic miscarriage in our European ancestry meta-analysis and three genome-wide significant associations for multiple consecutive miscarriage (rs7859844, MAF = 6.4%, P = 1.3 × 10-8, OR = 1.7; rs143445068, MAF = 0.8%, P = 5.2 × 10-9, OR = 3.4; rs183453668, MAF = 0.5%, P = 2.8 × 10-8, OR = 3.8). We further investigate the genetic architecture of miscarriage with biobank-scale Mendelian randomization, heritability, and genetic correlation analyses. Our results show that miscarriage etiopathogenesis is partly driven by genetic variation potentially related to placental biology, and illustrate the utility of large-scale biobank data for understanding this pregnancy complication.
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| 2. |
- Lozanovska, Ivana, et al.
(författare)
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Functional Diversity of Riparian Woody Vegetation Is Less Affected by River Regulation in the Mediterranean Than Boreal Region
- 2020
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Ingår i: Frontiers in Plant Science. - : Frontiers Media S.A.. - 1664-462X. ; 11
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Tidskriftsartikel (refereegranskat)abstract
- River regulation may filter out riparian plants often resulting in reduced functional diversity, i.e., in the range of functions that organisms have in communities and ecosystems. There is, however, little empirical evidence about the magnitude of such reductions in different regions. We investigated the functional diversity patterns of riparian woody vegetation to streamflow regulation in boreal Sweden and Mediterranean Portugal using nine plant functional traits and field data from 109 sampling sites. We evaluated changes in mean plant functional traits as well as in indices of multidimensional functional traits, i.e., functional richness (FRic) and functional redundancy (FRed) within regions and between free-flowing and regulated river reaches. We found that regulation significantly reduced functional diversity in Sweden but not in Portugal. In Sweden, the increased magnitude of variations in water flow and water level in summer, the prolonged duration of extreme hydrological events, the increased frequency of high-water pulses, and the rate of change in water conditions were the likely main drivers of functional diversity change. Small riparian plant species with tiny leaves, poorly lignified stems, and shallow root systems were consistently associated with regulated sites in the boreal region. In Portugal, the similar functional diversity values for free-flowing and regulated rivers likely stem from the smaller streamflow alterations by regulation combined with the species legacy adaptations to the Mediterranean natural hydrological regimes. We conclude that streamflow regulation may reduce the functional diversity of riparian woody vegetation, but the magnitude of these effects will vary depending on the adaptations of the local flora and the patterns of streamflow disturbances. Our study provides insights into functional diversity patterns of riparian woody vegetation affected by regulation in contrasting biomes and encourages further studies of the functional diversity thresholds for maintaining ecosystems.
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| 3. |
- 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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