| 1. |
- Kanai, M, et al.
(författare)
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- 2023
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swepub:Mat__t
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| 2. |
- Turcot, Valerie, et al.
(författare)
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Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity
- 2018
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Ingår i: Nature Genetics. - : Nature Publishing Group. - 1061-4036 .- 1546-1718. ; 50:1, s. 26-41
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Tidskriftsartikel (refereegranskat)abstract
- Genome-wide association studies (GWAS) have identified >250 loci for body mass index (BMI), implicating pathways related to neuronal biology. Most GWAS loci represent clusters of common, noncoding variants from which pinpointing causal genes remains challenging. Here we combined data from 718,734 individuals to discover rare and low-frequency (minor allele frequency (MAF) < 5%) coding variants associated with BMI. We identified 14 coding variants in 13 genes, of which 8 variants were in genes (ZBTB7B, ACHE, RAPGEF3, RAB21, ZFHX3, ENTPD6, ZFR2 and ZNF169) newly implicated in human obesity, 2 variants were in genes (MC4R and KSR2) previously observed to be mutated in extreme obesity and 2 variants were in GIPR. The effect sizes of rare variants are similar to 10 times larger than those of common variants, with the largest effect observed in carriers of an MC4R mutation introducing a stop codon (p.Tyr35Ter, MAF = 0.01%), who weighed similar to 7 kg more than non-carriers. Pathway analyses based on the variants associated with BMI confirm enrichment of neuronal genes and provide new evidence for adipocyte and energy expenditure biology, widening the potential of genetically supported therapeutic targets in obesity.
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| 3. |
- Justice, Anne E., et al.
(författare)
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Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution
- 2019
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Ingår i: Nature Genetics. - : Nature Publishing Group. - 1061-4036 .- 1546-1718. ; 51:3, s. 452-469
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Tidskriftsartikel (refereegranskat)abstract
- Body-fat distribution is a risk factor for adverse cardiovascular health consequences. We analyzed the association of body-fat distribution, assessed by waist-to-hip ratio adjusted for body mass index, with 228,985 predicted coding and splice site variants available on exome arrays in up to 344,369 individuals from five major ancestries (discovery) and 132,177 European-ancestry individuals (validation). We identified 15 common (minor allele frequency, MAF >= 5%) and nine low-frequency or rare (MAF < 5%) coding novel variants. Pathway/gene set enrichment analyses identified lipid particle, adiponectin, abnormal white adipose tissue physiology and bone development and morphology as important contributors to fat distribution, while cross-trait associations highlight cardiometabolic traits. In functional follow-up analyses, specifically in Drosophila RNAi-knockdowns, we observed a significant increase in the total body triglyceride levels for two genes (DNAH10 and PLXND1). We implicate novel genes in fat distribution, stressing the importance of interrogating low-frequency and protein-coding variants.
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| 4. |
- Eggertsen, Maria, et al.
(författare)
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Economic value of small-scale sea cucumber fisheries under two contrasting management regimes
- 2020
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Ingår i: Ecology and Society. - 1708-3087. ; 25:2
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Tidskriftsartikel (refereegranskat)abstract
- Small-scale fisheries supplying tropical sea cucumbers to Asian markets frequently overharvest stocks, incurring unknown loss of economic value. An indication of such value loss can provide economic incentives for better conservation and management. However, before and after time-series by which loss could be calculated are generally not available for most sea cucumber fisheries. In this study we provide a snapshot comparison of stocks of three characteristic sea cucumber species in two islands in the Western Indian Ocean: Zanzibar (open-access fishery) and Mayotte (stocks protected since 2004). Our aim is to provide an indication of reference economic value of holothurian populations under two contrasting management regimes. Comparisons were made from stock appraisals using transects, linked to the species-specific market value, and compared between similar habitats from both locations. Surveyed habitats in Mayotte held sea cucumber stocks with a mean economic value of USD556.90 +/- 110.30/ha, compared with USD1.73 +/- 0.58/ ha in Zanzibar. A 5% harvest of sea cucumbers from surveyed areas in Mayotte would yield about 20 times greater income than harvesting the total surveyed stock in Zanzibar. By illustrating the economic value when strong management measures are implemented, this study highlights existing economic values and shows that sea cucumber fisheries in the tropics are a resource worth investing in and with high potential for social-economic benefits if properly managed.
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| 5. |
- Eriksson, Hampus, 1979-, et al.
(författare)
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Sea Cucumber Aquaculture in the Western Indian Ocean : Challenges for Sustainable Livelihood and Stock Improvement
- 2012
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Ingår i: Ambio. - : Springer Science and Business Media LLC. - 0044-7447 .- 1654-7209. ; 41:2, s. 109-121
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Forskningsöversikt (refereegranskat)abstract
- The decline in sea cucumber fisheries that serve the Asian dried seafood market has prompted an increase in global sea cucumber aquaculture. The tropical sandfish (Holothuria scabra) has in this context been reared and produced with mixed success. In the Western Indian Ocean, villagers often participate in the export fishery for sea cucumbers as a source of income. However, with a growing concern of depleted stocks introduction of hatcheries to farm sandfish as a community livelihood and to replenish wild stocks is being promoted. This review identifies and discusses a number of aspects that constitute constraints or implications with regard to development of sandfish farming in the region. The conclusion is that for sandfish farming to live up to its expectations the possible impacts need to be further studied, and that improved evaluation of ongoing projects is required. In the interim a precautionary approach towards new enterprise activities is suggested.
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