| 1. |
- Glasbey, JC, et al.
(författare)
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- 2021
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swepub:Mat__t
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| 2. |
- Tabiri, S, et al.
(författare)
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- 2021
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swepub:Mat__t
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| 3. |
- Bravo, L, et al.
(författare)
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- 2021
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swepub:Mat__t
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| 4. |
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| 5. |
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| 6. |
- Lango Allen, Hana, et al.
(författare)
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Hundreds of variants clustered in genomic loci and biological pathways affect human height.
- 2010
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 1476-4687 .- 0028-0836. ; 467:7317, s. 832-8
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Tidskriftsartikel (refereegranskat)abstract
- Most common human traits and diseases have a polygenic pattern of inheritance: DNA sequence variants at many genetic loci influence the phenotype. Genome-wide association (GWA) studies have identified more than 600 variants associated with human traits, but these typically explain small fractions of phenotypic variation, raising questions about the use of further studies. Here, using 183,727 individuals, we show that hundreds of genetic variants, in at least 180 loci, influence adult height, a highly heritable and classic polygenic trait. The large number of loci reveals patterns with important implications for genetic studies of common human diseases and traits. First, the 180 loci are not random, but instead are enriched for genes that are connected in biological pathways (P = 0.016) and that underlie skeletal growth defects (P<0.001). Second, the likely causal gene is often located near the most strongly associated variant: in 13 of 21 loci containing a known skeletal growth gene, that gene was closest to the associated variant. Third, at least 19 loci have multiple independently associated variants, suggesting that allelic heterogeneity is a frequent feature of polygenic traits, that comprehensive explorations of already-discovered loci should discover additional variants and that an appreciable fraction of associated loci may have been identified. Fourth, associated variants are enriched for likely functional effects on genes, being over-represented among variants that alter amino-acid structure of proteins and expression levels of nearby genes. Our data explain approximately 10% of the phenotypic variation in height, and we estimate that unidentified common variants of similar effect sizes would increase this figure to approximately 16% of phenotypic variation (approximately 20% of heritable variation). Although additional approaches are needed to dissect the genetic architecture of polygenic human traits fully, our findings indicate that GWA studies can identify large numbers of loci that implicate biologically relevant genes and pathways.
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| 7. |
- Marouli, Eirini, et al.
(författare)
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Rare and low-frequency coding variants alter human adult height
- 2017
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 542:7640, s. 186-190
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Tidskriftsartikel (refereegranskat)abstract
- Height is a highly heritable, classic polygenic trait with approximately 700 common associated variants identified through genome-wide association studies so far. Here, we report 83 height-associated coding variants with lower minor-allele frequencies (in the range of 0.1-4.8%) and effects of up to 2 centimetres per allele (such as those in IHH, STC2, AR and CRISPLD2), greater than ten times the average effect of common variants. In functional follow-up studies, rare height increasing alleles of STC2 (giving an increase of 1-2 centimetres per allele) compromised proteolytic inhibition of PAPP-A and increased cleavage of IGFBP-4 in vitro, resulting in higher bioavailability of insulin-like growth factors. These 83 height-associated variants overlap genes that are mutated in monogenic growth disorders and highlight new biological candidates (such as ADAMTS3, IL11RA and NOX4) and pathways (such as proteoglycan and glycosaminoglycan synthesis) involved in growth. Our results demonstrate that sufficiently large sample sizes can uncover rare and low-frequency variants of moderate-to-large effect associated with polygenic human phenotypes, and that these variants implicate relevant genes and pathways.
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| 8. |
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| 9. |
- van Damme, E., et al.
(författare)
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How Werner Guth's ultimatum game shaped our understanding of social behavior
- 2014
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Ingår i: Journal of Economic Behavior & Organization. - : Elsevier BV. - 0167-2681. ; 108, s. 292-318
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Tidskriftsartikel (refereegranskat)abstract
- Werner Guth's ultimatum game played a key role in the development of multiple research areas, several of which are highlighted. (C) 2014 Published by Elsevier B.V.
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| 10. |
- Aydogan, G., et al.
(författare)
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Oxytocin promotes altruistic punishment
- 2017
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Ingår i: Social Cognitive and Affective Neuroscience. - : Oxford University Press (OUP). - 1749-5016 .- 1749-5024. ; 12:11, s. 1740-1747
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Tidskriftsartikel (refereegranskat)abstract
- The role of neuromodulators in the enforcement of cooperation is still not well understood. Here, we provide evidence that intranasal applied oxytocin, an important hormone for modulating social behavior, enhances the inclination to sanction free-riders in a social dilemma situation. Contrary to the notion of oxytocin being a pro-social hormone, we found that participants treated with oxytocin exhibited an amplification of self-reported negative social emotions such as anger towards free-riders, ultimately resulting in higher magnitude and frequency of punishment of free-riders compared to placebo. Furthermore, we found initial evidence that oxytocin contributes to the positive effects of a punishment institution by rendering cooperation preferable in the oxytocin condition for even the most selfish players when punishment was available. Together, these findings imply that the neural circuits underlying altruistic punishment are partly targeted by the oxytonergic system and highlight the importance of neuromodulators in group cohesion and norm enforcement within social groups.
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