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Sökning: WFRF:(Aung Tin) > (2020-2021)

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1.
  • Muriel, Jaime, et al. (författare)
  • Prevalence and diversity of avian haemosporidians may vary with anthropogenic disturbance in tropical habitats in myanmar
  • 2021
  • Ingår i: Diversity. - : MDPI Multidisciplinary Digital Publishing Institute. - 1424-2818. ; 13:3
  • Tidskriftsartikel (refereegranskat)abstract
    • Avian malaria and related haemosporidians (genera Haemoproteus, Plasmodium and Leu-cocytozoon) infect most clades of bird. Although these parasites are present in almost all continents, they have been irregularly studied across different geographical regions. Despite the high bird diversity in Asia, the diversity of avian haemosporidians in this region is largely unknown. Moreover, anthropogenic changes to habitats in tropical regions may have a profound impact on the overall composition of haemosporidian communities. Here we analyzed the diversity and host association of bird haemosporidians from areas with different degrees of anthropogenic disturbance in Myan-mar, revealing an unexplored diversity of these parasites (27% of newly-discovered haemosporid-ian lineages, and 64% of new records of host–parasite assemblages) in these tropical environments. This newly discovered diversity will be valuable for detecting host range and transmission areas of haemosporidian parasites. We also found slightly higher haemosporidian prevalence and diversity in birds from paddy fields than in individuals from urban areas and hills, thus implying that human alteration of natural environments may affect the dynamics of vector-borne diseases. These outcomes provide valuable insights for biodiversity conservation management in threatened tropical ecosystems.
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2.
  • Lahrouchi, Najim, et al. (författare)
  • Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome
  • 2020
  • Ingår i: Circulation. - : Lippincott Williams & Wilkins. - 0009-7322 .- 1524-4539. ; 142:4, s. 324-338
  • Tidskriftsartikel (refereegranskat)abstract
    • Background: Long QT syndrome (LQTS) is a rare genetic disorder and a major preventable cause of sudden cardiac death in the young. A causal rare genetic variant with large effect size is identified in up to 80% of probands (genotype positive) and cascade family screening shows incomplete penetrance of genetic variants. Furthermore, a proportion of cases meeting diagnostic criteria for LQTS remain genetically elusive despite genetic testing of established genes (genotype negative). These observations raise the possibility that common genetic variants with small effect size contribute to the clinical picture of LQTS. This study aimed to characterize and quantify the contribution of common genetic variation to LQTS disease susceptibility. Methods: We conducted genome-wide association studies followed by transethnic meta-analysis in 1656 unrelated patients with LQTS of European or Japanese ancestry and 9890 controls to identify susceptibility single nucleotide polymorphisms. We estimated the common variant heritability of LQTS and tested the genetic correlation between LQTS susceptibility and other cardiac traits. Furthermore, we tested the aggregate effect of the 68 single nucleotide polymorphisms previously associated with the QT-interval in the general population using a polygenic risk score. Results: Genome-wide association analysis identified 3 loci associated with LQTS at genome-wide statistical significance (P<5x10(-8)) nearNOS1AP,KCNQ1, andKLF12, and 1 missense variant inKCNE1(p.Asp85Asn) at the suggestive threshold (P<10(-6)). Heritability analyses showed that approximate to 15% of variance in overall LQTS susceptibility was attributable to common genetic variation (h2SNP0.148; standard error 0.019). LQTS susceptibility showed a strong genome-wide genetic correlation with the QT-interval in the general population (r(g)=0.40;P=3.2x10(-3)). The polygenic risk score comprising common variants previously associated with the QT-interval in the general population was greater in LQTS cases compared with controls (P<10-13), and it is notable that, among patients with LQTS, this polygenic risk score was greater in patients who were genotype negative compared with those who were genotype positive (P<0.005). Conclusions: This work establishes an important role for common genetic variation in susceptibility to LQTS. We demonstrate overlap between genetic control of the QT-interval in the general population and genetic factors contributing to LQTS susceptibility. Using polygenic risk score analyses aggregating common genetic variants that modulate the QT-interval in the general population, we provide evidence for a polygenic architecture in genotype negative LQTS.
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