| 1. |
- Machiela, Mitchell J., et al.
(författare)
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Characterization of Large Structural Genetic Mosaicism in Human Autosomes
- 2015
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Ingår i: American Journal of Human Genetics. - : Elsevier BV. - 0002-9297 .- 1537-6605. ; 96:3, s. 487-497
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Tidskriftsartikel (refereegranskat)abstract
- Analyses of genome-wide association study (GWAS) data have revealed that detectable genetic mosaicism involving large (>2 Mb) structural autosomal alterations occurs in a fraction of individuals. We present results for a set of 24,849 genotyped individuals (total GWAS set II [TGSII]) in whom 341 large autosomal abnormalities were observed in 168 (0.68%) individuals. Merging data from the new TGSII set with data from two prior reports (the Gene-Environment Association Studies and the total GWAS set I) generated a large dataset of 127,179 individuals; we then conducted a meta-analysis to investigate the patterns of detectable autosomal mosaicism (n = 1,315 events in 925 [0.73%] individuals). Restricting to events >2 Mb in size, we observed an increase in event frequency as event size decreased. The combined results underscore that the rate of detectable mosaicism increases with age (p value = 5.5 x 3 10(-31)) and is higher in men (p value = 0.002) but lower in participants of African ancestry (p value = 0.003). In a subset of 47 individuals from whom serial samples were collected up to 6 years apart, complex changes were noted over time and showed an overall increase in the proportion of mosaic cells as age increased. Our large combined sample allowed for a unique ability to characterize detectable genetic mosaicism involving large structural events and strengthens the emerging evidence of non-random erosion of the genome in the aging population.
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| 2. |
- Emig, Kimberly L., et al.
(författare)
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Super Star Clusters in the Central Starburst of NGC 4945
- 2020
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Ingår i: Astrophysical Journal. - : American Astronomical Society. - 1538-4357 .- 0004-637X. ; 903:1
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Tidskriftsartikel (refereegranskat)abstract
- The nearby (3.8Mpc) galaxy NGC 4945 hosts a nuclear starburst and Seyfert type 2 active galactic nucleus (AGN). We use the Atacama Large Millimeter/submillimeter Array (ALMA) to image the 93 GHz (3.2 mm) free-free continuum and hydrogen recombination line emission (H40 alpha and H42 alpha) at 2.2 pc (0 12) resolution. Our observations reveal 27 bright, compact sources with FWHM sizes of 1.4-4.0 pc, which we identify as candidate super star clusters. Recombination line emission, tracing the ionizing photon rate of the candidate clusters, is detected in 15 sources, six of which have a significant synchrotron component to the 93 GHz continuum. Adopting an age of similar to 5Myr, the stellar masses implied by the ionizing photon luminosities are log(10) (M*/M-circle dot) approximate to 4.7-6.1. We fit a slope to the cluster mass distribution and find beta = -1.8 +/-.0.4. The gas masses associated with these clusters, derived from the dust continuum at 350 GHz, are typically an order of magnitude lower than the stellar mass. These candidate clusters appear to have already converted a large fraction of their dense natal material into stars and, given their small freefall times of similar to 0.05 Myr, are surviving an early volatile phase. We identify a pointlike source in 93 GHz continuum emission that is presumed to be the AGN. We do not detect recombination line emission from the AGN and place an upper limit on the ionizing photons that leak into the starburst region of Q(0).<.10(52) s(-1).
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| 3. |
- Ginsburg, Carren, et al.
(författare)
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Association between internal migration and epidemic dynamics : an analysis of cause-specific mortality in Kenya and South Africa using health and demographic surveillance data
- 2018
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Ingår i: BMC Public Health. - : BioMed Central. - 1471-2458. ; 18
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Tidskriftsartikel (refereegranskat)abstract
- Background: Many low- and middle-income countries are facing a double burden of disease with persisting high levels of infectious disease, and an increasing prevalence of non-communicable disease (NCD). Within these settings, complex processes and transitions concerning health and population are underway, altering population dynamics and patterns of disease. Understanding the mechanisms through which changing socioeconomic and environmental contexts may influence health is central to developing appropriate public health policy. Migration, which involves a change in environment and health exposure, is one such mechanism. Methods: This study uses Competing Risk Models to examine the relationship between internal migration and premature mortality from AIDS/TB and NCDs. The analysis employs 9 to 14 years of longitudinal data from four Health and Demographic Surveillance Systems (HDSS) of the INDEPTH Network located in Kenya and South Africa (populations ranging from 71 to 223 thousand). The study tests whether the mortality of migrants converges to that of non-migrants over the period of observation, controlling for age, sex and education level. Results: In all four HDSS, AIDS/TB has a strong influence on overall deaths. However, in all sites the probability of premature death (45q15) due to AIDS/TB is declining in recent periods, having exceeded 0.39 in the South African sites and 0.18 in the Kenyan sites in earlier years. In general, the migration effect presents similar patterns in relation to both AIDS/TB and NCD mortality, and shows a migrant mortality disadvantage with no convergence between migrants and non-migrants over the period of observation. Return migrants to the Agincourt HDSS (South Africa) are on average four times more likely to die of AIDS/TB or NCDs than are non-migrants. In the Africa Health Research Institute (South Africa) female return migrants have approximately twice the risk of dying from AIDS/TB from the year 2004 onwards, while there is a divergence to higher AIDS/TB mortality risk amongst female migrants to the Nairobi HDSS from 2010. Conclusion: Results suggest that structural socioeconomic issues, rather than epidemic dynamics are likely to be associated with differences in mortality risk by migrant status. Interventions aimed at improving recent migrant's access to treatment may mitigate risk.
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