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- Weiner, D. J., et al.
(författare)
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Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders
- 2017
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 49:7
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Tidskriftsartikel (refereegranskat)abstract
- Autism spectrum disorder (ASD) risk is influenced by common polygenic and de novo variation. We aimed to clarify the influence of polygenic risk for ASD and to identify subgroups of ASD cases, including those with strongly acting de novo variants, in which polygenic risk is relevant. Using a novel approach called the polygenic transmission disequilibrium test and data from 6,454 families with a child with ASD, we show that polygenic risk for ASD, schizophrenia, and greater educational attainment is over-transmitted to children with ASD. These findings hold independent of proband IQ. We find that polygenic variation contributes additively to risk in ASD cases who carry a strongly acting de novo variant. Lastly, we show that elements of polygenic risk are independent and differ in their relationship with phenotype. These results confirm that the genetic influences on ASD are additive and suggest that they create risk through at least partially distinct etiologic pathways.
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- Anney, R. J. L., et al.
(författare)
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Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia
- 2017
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Ingår i: Molecular Autism. - : Springer Science and Business Media LLC. - 2040-2392. ; 8
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Tidskriftsartikel (refereegranskat)abstract
- Background: Over the past decade genome-wide association studies (GWAS) have been applied to aid in the understanding of the biology of traits. The success of this approach is governed by the underlying effect sizes carried by the true risk variants and the corresponding statistical power to observe such effects given the study design and sample size under investigation. Previous ASD GWAS have identified genome-wide significant (GWS) risk loci; however, these studies were of only of low statistical power to identify GWS loci at the lower effect sizes (odds ratio (OR) < 1.15). Methods: We conducted a large-scale coordinated international collaboration to combine independent genotyping data to improve the statistical power and aid in robust discovery of GWS loci. This study uses genome-wide genotyping data from a discovery sample (7387 ASD cases and 8567 controls) followed by meta-analysis of summary statistics from two replication sets (7783 ASD cases and 11359 controls; and 1369 ASD cases and 137308 controls). Results: We observe a GWS locus at 10q24.32 that overlaps several genes including PITX3, which encodes a transcription factor identified as playing a role in neuronal differentiation and CUEDC2 previously reported to be associated with social skills in an independent population cohort. We also observe overlap with regions previously implicated in schizophrenia which was further supported by a strong genetic correlation between these disorders (Rg = 0.23; P= 9 x10(-6)). We further combined these Psychiatric Genomics Consortium (PGC) ASD GWAS data with the recent PGC schizophrenia GWAS to identify additional regions which may be important in a common neurodevelopmental phenotype and identified 12 novel GWS loci. These include loci previously implicated in ASD such as FOXP1 at 3p13, ATP2B2 at 3p25.3, and a 'neurodevelopmental hub' on chromosome 8p11.23. Conclusions: This study is an important step in the ongoing endeavour to identify the loci which underpin the common variant signal in ASD. In addition to novel GWS loci, we have identified a significant genetic correlation with schizophrenia and association of ASD with several neurodevelopmental- related genes such as EXT1, ASTN2, MACROD2, and HDAC4.
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- Antoniou, A. C., et al.
(författare)
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Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers : Implications for risk prediction
- 2010
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Ingår i: Cancer Research. - : American Association for Cancer Research. - 0008-5472 .- 1538-7445. ; 70:23, s. 9742-9754
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Tidskriftsartikel (refereegranskat)abstract
- The known breast cancer susceptibility polymorphisms in FGFR2, TNRC9/TOX3, MAP3K1, LSP1, and 2q35 confer increased risks of breast cancer for BRCA1 or BRCA2 mutation carriers. We evaluated the associations of 3 additional single nucleotide polymorphisms (SNPs), rs4973768 in SLC4A7/NEK10, rs6504950 in STXBP4/COX11, and rs10941679 at 5p12, and reanalyzed the previous associations using additional carriers in a sample of 12,525 BRCA1 and 7,409 BRCA2 carriers. Additionally, we investigated potential interactions between SNPs and assessed the implications for risk prediction. The minor alleles of rs4973768 and rs10941679 were associated with increased breast cancer risk for BRCA2 carriers (per-allele HR = 1.10, 95% CI: 1.03-1.18, P = 0.006 and HR = 1.09, 95% CI: 1.01-1.19, P = 0.03, respectively). Neither SNP was associated with breast cancer risk for BRCA1 carriers, and rs6504950 was not associated with breast cancer for either BRCA1 or BRCA2 carriers. Of the 9 polymorphisms investigated, 7 were associated with breast cancer for BRCA2 carriers (FGFR2, TOX3, MAP3K1, LSP1, 2q35, SLC4A7, 5p12, P = 7 × 10-11 - 0.03), but only TOX3 and 2q35 were associated with the risk for BRCA1 carriers (P = 0.0049, 0.03, respectively). All risk-associated polymorphisms appear to interact multiplicatively on breast cancer risk for mutation carriers. Based on the joint genotype distribution of the 7 risk-associated SNPs in BRCA2 mutation carriers, the 5% of BRCA2 carriers at highest risk (i.e., between 95th and 100th percentiles) were predicted to have a probability between 80% and 96% of developing breast cancer by age 80, compared with 42% to 50% for the 5% of carriers at lowest risk. Our findings indicated that these risk differences might be sufficient to influence the clinical management of mutation carriers.
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- Abazajian, Kevork, et al.
(författare)
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CMB-S4 : Forecasting Constraints on Primordial Gravitational Waves
- 2022
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Ingår i: Astrophysical Journal. - : American Astronomical Society. - 0004-637X .- 1538-4357. ; 926:1
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Tidskriftsartikel (refereegranskat)abstract
- CMB-S4—the next-generation ground-based cosmic microwave background (CMB) experiment—is set to significantly advance the sensitivity of CMB measurements and enhance our understanding of the origin and evolution of the universe. Among the science cases pursued with CMB-S4, the quest for detecting primordial gravitational waves is a central driver of the experimental design. This work details the development of a forecasting framework that includes a power-spectrum-based semianalytic projection tool, targeted explicitly toward optimizing constraints on the tensor-to-scalar ratio, r, in the presence of Galactic foregrounds and gravitational lensing of the CMB. This framework is unique in its direct use of information from the achieved performance of current Stage 2–3 CMB experiments to robustly forecast the science reach of upcoming CMB-polarization endeavors. The methodology allows for rapid iteration over experimental configurations and offers a flexible way to optimize the design of future experiments, given a desired scientific goal. To form a closed-loop process, we couple this semianalytic tool with map-based validation studies, which allow for the injection of additional complexity and verification of our forecasts with several independent analysis methods. We document multiple rounds of forecasts for CMB-S4 using this process and the resulting establishment of the current reference design of the primordial gravitational-wave component of the Stage-4 experiment, optimized to achieve our science goals of detecting primordial gravitational waves for r > 0.003 at greater than 5σ, or in the absence of a detection, of reaching an upper limit of r < 0.001 at 95% CL.
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- Cardona, R., et al.
(författare)
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High-spin structure of normal-deformed bands in 84Zr
- 2003
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Ingår i: Physical Review C - Nuclear Physics. - 0556-2813. ; 68, s. 1-024303
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Tidskriftsartikel (refereegranskat)abstract
- The reaction 58Ni(32S, α2p) at E lab= 135 MeV was used to populate high-spin states in 84Zr. The complete GAMMASPHERE and MICROBALL arrays were used to obtain clean γ- γ- γ line shapes to be analyzed by the Doppler shift attenuation method and to determine 27 lifetimes in the ground-state band and in two excited bands. Side-feeding times were also measured by comparing the line shapes gated with transitions above and below the state under study. The deduced electric quadrupole moments for the ground-state band are consistent with a very slow reduction with frequency with values ranging between 2.4(3) and 2.0(1)e b. The negative-parity bands feature also an approximate constancy of quadrupole moment with values similar to those in the ground-state band. Cranking calculations agree with this behavior in both parity bands and suggest an interpretation of the upper states in the ground-state band as part of a very slowly terminating band. Shell-dependent cranked Nilsson calculations explain a fourth γ cascade as pertaining to a noncollective structure terminating at I = 20+.
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- Sun, H., et al.
(författare)
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New Band Structures and an Unpaired Crossing in 78Kr
- 1999
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Ingår i: Physical Review C (Nuclear Physics). - 0556-2813. ; 59:2, s. 655-664
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Tidskriftsartikel (refereegranskat)abstract
- High-spin states in Kr-78 were studied using the Ni-58(Na-23,3p) reaction at 70 MeV and the Ni-58(Si-23,alpha 4p) reaction at 130 MeV. Prompt gamma-gamma coincidences were measured using the Pitt-FSU detector array and the GAMMASPHERE-MICROBALL array. Results from these experiments have led to 26 new excitation levels, some of which have been grouped into 3 new bands. Spins were assigned based on directional correlations of oriented nuclei. Two of the new negative-parity bands appear to form a signature-partner pair based on a two-quasineutron structure, in contrast to the previously known two-quasiproton negative-parity bands. A forking has been observed at the 24(+) state in the yrast band, which calculations suggest may result from an unpaired crossing. The available evidence suggests oblate shapes in the yrast band coexist with prolate shapes in the negative-parity bands. [S0556-2813(99)04602-6].
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| 21. |
- Svensson, C. E., et al.
(författare)
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Decay Out of the Doubly Magic Superdeformed Band in the N=Z Nucleus 60Zn
- 1999
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Ingår i: Physical Review Letters. - 1079-7114. ; 82:17, s. 3400-3403
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Tidskriftsartikel (refereegranskat)abstract
- The doubly magic superdeformed band in the N = Z nucleus Zn-60 has been identified. Linking transitions connecting this band to the yrast line provide the first spin, parity, and excitation energy measurements for superdeformed states in the A similar to 60 region. The stretched-E2 character and relatively large B(E2) values of these transitions suggest a nonstatistical decay-out process.
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| 22. |
- Svensson, C. E., et al.
(författare)
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Smooth Termination of Rotational Bands in 62Zn: Evidence for a Loss of Collectivity
- 1998
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Ingår i: Physical Review Letters. - 1079-7114. ; 80:12, s. 2558-2561
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Tidskriftsartikel (refereegranskat)abstract
- Two sets of strongly coupled rotational bands have been identified in Zn-62. These bands have been observed up to the terminating states of their respective configurations. Lifetime measurements indicate that the transition quadrupole moments in these bands decrease as termination is approached. These results establish the first terminating states of rotational bands in the A similar to 60 mass region and confirm the predicted loss of collectivity associated with smooth band termination.
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| 23. |
- Wiedeking, M., et al.
(författare)
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Transition strengths and band terminations in 86Zr
- 2003
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Ingår i: Physical Review C - Nuclear Physics. - 0556-2813. ; 67, s. 1-034320
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Tidskriftsartikel (refereegranskat)abstract
- High angular momentum states in 86Zr were populated through the 58Ni(32S,4p) reaction at 135 MeV using the 88-In. Cyclotron at Lawrence Berkeley National Laboratory. Recoiling 86Zr nuclei were stopped in a thick Ta backing. Prompt multi-γ coincidences with evaporated charged particles were detected using the full array of GAMMASPHERE and the MICROBALL. Mean lifetimes of 36 levels in 86Zr were measured using the Doppler-shift attenuation method. Transition quadrupole moments Qt were found in the range of about 0.3-1.5 e b in the positive-parity bands. The negative-parity bands show Qt values from about 0.25 to 1.2 e b. In the yrast positive-parity band, a sharp drop in collectivity approaching the 30+ state supports the interpretation of band termination in this configuration. Decreasing Qt values approaching the 24+ and 27- states also provide an indication of terminating structures.
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