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- Clark, DW, et al.
(författare)
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Associations of autozygosity with a broad range of human phenotypes
- 2019
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Ingår i: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 10:1, s. 4957-
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Tidskriftsartikel (refereegranskat)abstract
- In many species, the offspring of related parents suffer reduced reproductive success, a phenomenon known as inbreeding depression. In humans, the importance of this effect has remained unclear, partly because reproduction between close relatives is both rare and frequently associated with confounding social factors. Here, using genomic inbreeding coefficients (FROH) for >1.4 million individuals, we show that FROH is significantly associated (p < 0.0005) with apparently deleterious changes in 32 out of 100 traits analysed. These changes are associated with runs of homozygosity (ROH), but not with common variant homozygosity, suggesting that genetic variants associated with inbreeding depression are predominantly rare. The effect on fertility is striking: FROH equivalent to the offspring of first cousins is associated with a 55% decrease [95% CI 44–66%] in the odds of having children. Finally, the effects of FROH are confirmed within full-sibling pairs, where the variation in FROH is independent of all environmental confounding.
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- Kilpelainen, TO, et al.
(författare)
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Multi-ancestry study of blood lipid levels identifies four loci interacting with physical activity
- 2019
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Ingår i: Nature communications. - London : Springer Science and Business Media LLC. - 2041-1723. ; 10:1, s. 376-
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Tidskriftsartikel (refereegranskat)abstract
- Many genetic loci affect circulating lipid levels, but it remains unknown whether lifestyle factors, such as physical activity, modify these genetic effects. To identify lipid loci interacting with physical activity, we performed genome-wide analyses of circulating HDL cholesterol, LDL cholesterol, and triglyceride levels in up to 120,979 individuals of European, African, Asian, Hispanic, and Brazilian ancestry, with follow-up of suggestive associations in an additional 131,012 individuals. We find four loci, in/near CLASP1, LHX1, SNTA1, and CNTNAP2, that are associated with circulating lipid levels through interaction with physical activity; higher levels of physical activity enhance the HDL cholesterol-increasing effects of the CLASP1, LHX1, and SNTA1 loci and attenuate the LDL cholesterol-increasing effect of the CNTNAP2 locus. The CLASP1, LHX1, and SNTA1 regions harbor genes linked to muscle function and lipid metabolism. Our results elucidate the role of physical activity interactions in the genetic contribution to blood lipid levels.
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- Chen, YA, et al.
(författare)
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Effects of Motor Training on Accuracy and Precision of Jaw and Finger Movements
- 2019
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Ingår i: Neural plasticity. - : Hindawi Limited. - 1687-5443 .- 2090-5904. ; 2019, s. 9593464-
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Tidskriftsartikel (refereegranskat)abstract
- Objective. To compare the effects of training of jaw and finger movements with and without visual feedback on precision and accuracy. Method. Twenty healthy participants (10 men and 10 women; mean age 24.6±0.8 years) performed two tasks: a jaw open-close movement and a finger lifting task with and without visual feedback before and after 3-day training. Individually determined target positions for the jaw corresponded to 50% of the maximal jaw opening position, and a fixed target position of 20 mm was set for the finger. Movements were repeated 10 times each. The variability in the amplitude of the movements was expressed as percentage in relation to the target position (Daccu—accuracy) and as coefficient of variation (CVprec—precision). Result. Daccu and CVprec were significantly influenced by visual feedback (P=0.001 and P<0.001, respectively) and reduced after training jaw and finger movements (P<0.001). Daccu (P=0.004) and CVprec (P=0.019) were significantly different between jaw and finger movements. The relative changes in Daccu (P=0.017) and CVprec (P=0.027) were different from pretraining to posttraining between jaw and finger movements. Conclusion. The accuracy and precision of standardized jaw and finger movements are dependent on visual feedback and appears to improve more by training in the trigeminal system possibly reflecting significant neuroplasticity in motor control mechanisms.
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