| 1. |
|
|
| 2. |
|
|
| 3. |
- Clark, DW, et al.
(author)
-
Associations of autozygosity with a broad range of human phenotypes
- 2019
-
In: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 10:1, s. 4957-
-
Journal article (peer-reviewed)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.
|
|
| 4. |
|
|
| 5. |
- Hagg, S, et al.
(author)
-
Short telomere length is associated with impaired cognitive performance in European ancestry cohorts
- 2017
-
In: Translational psychiatry. - : Springer Science and Business Media LLC. - 2158-3188. ; 7:4, s. e1100-
-
Journal article (peer-reviewed)abstract
- The association between telomere length (TL) dynamics on cognitive performance over the life-course is not well understood. This study meta-analyses observational and causal associations between TL and six cognitive traits, with stratifications on APOE genotype, in a Mendelian Randomization (MR) framework. Twelve European cohorts (N=17 052; mean age=59.2±8.8 years) provided results for associations between qPCR-measured TL (T/S-ratio scale) and general cognitive function, mini-mental state exam (MMSE), processing speed by digit symbol substitution test (DSST), visuospatial functioning, memory and executive functioning (STROOP). In addition, a genetic risk score (GRS) for TL including seven known genetic variants for TL was calculated, and used in associations with cognitive traits as outcomes in all cohorts. Observational analyses showed that longer telomeres were associated with better scores on DSST (β=0.051 per s.d.-increase of TL; 95% confidence interval (CI): 0.024, 0.077; P=0.0002), and MMSE (β=0.025; 95% CI: 0.002, 0.047; P=0.03), and faster STROOP (β=−0.053; 95% CI: −0.087, −0.018; P=0.003). Effects for DSST were stronger in APOE ɛ4 non-carriers (β=0.081; 95% CI: 0.045, 0.117; P=1.0 × 10−5), whereas carriers performed better in STROOP (β=−0.074; 95% CI: −0.140, −0.009; P=0.03). Causal associations were found for STROOP only (β=−0.598 per s.d.-increase of TL; 95% CI: −1.125, −0.072; P=0.026), with a larger effect in ɛ4-carriers (β=−0.699; 95% CI: −1.330, −0.069; P=0.03). Two-sample replication analyses using CHARGE summary statistics showed causal effects between TL and general cognitive function and DSST, but not with STROOP. In conclusion, we suggest causal effects from longer TL on better cognitive performance, where APOE ɛ4-carriers might be at differential risk.
|
|
| 6. |
|
|
| 7. |
|
|
| 8. |
- Lin, Chang, et al.
(author)
-
Study on Flow Fields of Boundary-Layer Separation and Hydraulic Jump during Rundown Motion of Shoaling Solitary Wave
- 2015
-
In: Journal of Earthquake and Tsunami. - : World Scientific. - 1793-7116. ; 9:5
-
Journal article (peer-reviewed)abstract
- The characteristics of flow fields for a complete evolution of the non-breaking solitary wave, having a wave-height to water-depth ratio of 0.363 and propagating over a 1:5 sloping bottom, are investigated experimentally. This study mainly focuses on the occurrences of both flow separation on the boundary layer under an adverse pressure gradient and subsequent hydraulic jump with the abrupt rising of free surface during run-down motion of the shoaling wave, together with emphasis on the evolution of vortex structures underlying the separated shear layer and hydraulic jump. A flow visualization technique with particle trajectory method and a high-speed particle image velocimetry (HSPIV) system with a high-speed digital camera were used. Based on the instantaneous flow images visualized and/or the ensemble-averaged velocity fields measured, the following interesting features, which are unknown up to date, are presented and discussed in this study: (1) Flow bifurcation occurring on both offshore and onshore sides of the explicit demarcation curve and the stagnation point during run-up motion; (2) The dependence of the diffuser-like flow field, being changed from the supercritical flow in the shallower region to the subcritical flow in the deeper counterpart, on the Froude number during the early and middle stages of run-down motion; (3) The positions and times for the occurrences of the incipient flow separation and the sudden rising of free surface of the hydraulic jump; (4) The associated movement and evolution of vortex structures under the separated shear layer, the hydraulic jump and/or the high-speed external main stream of the retreated flow; and (5) The entrainment of air bubbles from the free surface into the external main stream of the retreated flow.
|
|
| 9. |
|
|
| 10. |
|
|
