| 1. |
|
|
| 2. |
- Roselli, Carolina, et al.
(författare)
-
Multi-ethnic genome-wide association study for atrial fibrillation
- 2018
-
Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 50:9, s. 1225-1233
-
Tidskriftsartikel (refereegranskat)abstract
- Atrial fibrillation (AF) affects more than 33 million individuals worldwide(1) and has a complex heritability(2). We conducted the largest meta-analysis of genome-wide association studies (GWAS) for AF to date, consisting of more than half a million individuals, including 65,446 with AF. In total, we identified 97 loci significantly associated with AF, including 67 that were novel in a combined-ancestry analysis, and 3 that were novel in a European-specific analysis. We sought to identify AF-associated genes at the GWAS loci by performing RNA-sequencing and expression quantitative trait locus analyses in 101 left atrial samples, the most relevant tissue for AF. We also performed transcriptome-wide analyses that identified 57 AF-associated genes, 42 of which overlap with GWAS loci. The identified loci implicate genes enriched within cardiac developmental, electrophysiological, contractile and structural pathways. These results extend our understanding of the biological pathways underlying AF and may facilitate the development of therapeutics for AF.
|
|
| 3. |
- Dudding, Tom, et al.
(författare)
-
Genome wide analysis for mouth ulcers identifies associations at immune regulatory loci
- 2019
-
Ingår i: Nature Communications. - : NATURE PUBLISHING GROUP. - 2041-1723. ; 10, s. 1-12
-
Tidskriftsartikel (refereegranskat)abstract
- Mouth ulcers are the most common ulcerative condition and encompass several clinical diagnoses, including recurrent aphthous stomatitis (RAS). Despite previous evidence for heritability, it is not clear which specific genetic loci are implicated in RAS. In this genome-wide association study (n = 461,106) heritability is estimated at 8.2% (95% CI: 6.4%, 9.9%). This study finds 97 variants which alter the odds of developing non-specific mouth ulcers and replicate these in an independent cohort (n = 355,744) (lead variant after meta-analysis: rs76830965, near IL12A, OR 0.72 (95% CI: 0.71, 0.73); P = 4.4e-483). Additional effect estimates from three independent cohorts with more specific phenotyping and specific study characteristics support many of these findings. In silico functional analyses provide evidence for a role of T cell regulation in the aetiology of mouth ulcers. These results provide novel insight into the pathogenesis of a common, important condition.
|
|
| 4. |
|
|
| 5. |
- Santoni, Gregory W., et al.
(författare)
-
Mass fluxes and isofluxes of methane (ch4) at a new hampshire fen measured by a continuous wave quantum cascade laser spectrometer
- 2012
-
Ingår i: Journal of Geophysical Research. - 0148-0227 .- 2156-2202. ; 117, s. D10301-
-
Tidskriftsartikel (refereegranskat)abstract
- We have developed a mid-infrared continuous-wave quantum cascade laser direct-absorption spectrometer (QCLS) capable of high frequency (>= 1 Hz) measurements of (CH4)-C-12 and (CH4)-C-13 isotopologues of methane (CH4) with in situ 1-s RMS delta C-13(CH4) precision of 1.5 parts per thousand and Allan-minimum precision of 0.2 parts per thousand. We deployed this QCLS in a well-studied New Hampshire fen to compare measurements of CH4 isoflux by eddy covariance (EC) to Keeling regressions of data from automated flux chamber sampling. Mean CH4 fluxes of 6.5 +/- 0.7 mg CH4 m(-2) hr(-1) over two days of EC sampling in July, 2009 were indistinguishable from mean autochamber CH4 fluxes (6.6 +/- 0.8 mgCH(4) m(-2) hr(-1)) over the same period. Mean delta C-13(CH4) composition of emitted CH4 calculated using EC isoflux methods was -71 +/- 8 parts per thousand (95% C.I.) while Keeling regressions of 332 chamber closing events over 8 days yielded a corresponding value of -64.5 +/- 0.8 parts per thousand Ebullitive fluxes, representing similar to 10% of total CH4 fluxes at this site, were on average 1.2 parts per thousand enriched in C-13 compared to diffusive fluxes. CH4 isoflux time series have the potential to improve process-based understanding of methanogenesis, fully characterize source isotopic distributions, and serve as additional constraints for both regional and global CH4 modeling analysis.
|
|
