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Genetic and Metabol...
Genetic and Metabolic Determinants of Atrial Fibrillation in a General Population Sample : The CHRIS Study
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- Emmert, David B. (författare)
- Univ Lubeck, Inst Biomed, Eurac Res, I-39100 Bolzano, Italy.
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- Vukovic, Vladimir (författare)
- Univ Lubeck, Inst Biomed, Eurac Res, I-39100 Bolzano, Italy.;Inst Publ Hlth Vojvodina, Ctr Dis Control & Prevent, Novi Sad 21000, Serbia.
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- Dordevic, Nikola (författare)
- Univ Lubeck, Inst Biomed, Eurac Res, I-39100 Bolzano, Italy.
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- Weichenberger, Christian X. (författare)
- Univ Lubeck, Inst Biomed, Eurac Res, I-39100 Bolzano, Italy.
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- Losi, Chiara (författare)
- Tappeiner F Merano Hosp, Dept Cardiol, I-39012 Merano, Italy.
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- D'Elia, Yuri (författare)
- Univ Lubeck, Inst Biomed, Eurac Res, I-39100 Bolzano, Italy.
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- Volpato, Claudia (författare)
- Univ Lubeck, Inst Biomed, Eurac Res, I-39100 Bolzano, Italy.
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- Hernandes, Vinicius V. (författare)
- Univ Lubeck, Inst Biomed, Eurac Res, I-39100 Bolzano, Italy.
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- Gögele, Martin (författare)
- Univ Lubeck, Inst Biomed, Eurac Res, I-39100 Bolzano, Italy.
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- Foco, Luisa (författare)
- Univ Lubeck, Inst Biomed, Eurac Res, I-39100 Bolzano, Italy.
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- Pontali, Giulia (författare)
- Univ Lubeck, Inst Biomed, Eurac Res, I-39100 Bolzano, Italy.;Univ Trento, Dept Cellular Computat & Integrat Biol CIBIO, I-38122 Trento, Italy.
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- Mascalzoni, Deborah, 1973- (författare)
- Uppsala universitet,Centrum för forsknings- och bioetik,Univ Lubeck, Inst Biomed, Eurac Res, I-39100 Bolzano, Italy.
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- Domingues, Francisco S. (författare)
- Univ Lubeck, Inst Biomed, Eurac Res, I-39100 Bolzano, Italy.
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- Paulmichl, Rupert (författare)
- Tappeiner F Merano Hosp, Dept Cardiol, I-39012 Merano, Italy.
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- Pramstaller, Peter P. (författare)
- Univ Lubeck, Inst Biomed, Eurac Res, I-39100 Bolzano, Italy.
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- Pattaro, Cristian (författare)
- Univ Lubeck, Inst Biomed, Eurac Res, I-39100 Bolzano, Italy.
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- Rossini, Alessandra (författare)
- Univ Lubeck, Inst Biomed, Eurac Res, I-39100 Bolzano, Italy.
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- Rainer, Johannes (författare)
- Univ Lubeck, Inst Biomed, Eurac Res, I-39100 Bolzano, Italy.
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- Fuchsberger, Christian (författare)
- Univ Lubeck, Inst Biomed, Eurac Res, I-39100 Bolzano, Italy.
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- De Bortoli, Marzia (författare)
- Univ Lubeck, Inst Biomed, Eurac Res, I-39100 Bolzano, Italy.
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Univ Lubeck, Inst Biomed, Eurac Res, I-39100 Bolzano, Italy Univ Lubeck, Inst Biomed, Eurac Res, I-39100 Bolzano, Italy.;Inst Publ Hlth Vojvodina, Ctr Dis Control & Prevent, Novi Sad 21000, Serbia. (creator_code:org_t)
- 2021-11-09
- 2021
- Engelska.
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Ingår i: Biomolecules. - : MDPI. - 2218-273X. ; 11:11
- Relaterad länk:
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https://uu.diva-port... (primary) (Raw object)
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https://www.mdpi.com...
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https://urn.kb.se/re...
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https://doi.org/10.3...
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Abstract
Ämnesord
Stäng
- Atrial fibrillation (AF) is a supraventricular arrhythmia deriving from uncoordinated electrical activation with considerable associated morbidity and mortality. To expand the limited understanding of AF biological mechanisms, we performed two screenings, investigating the genetic and metabolic determinants of AF in the Cooperative Health Research in South Tyrol study. We found 110 AF cases out of 10,509 general population individuals. A genome-wide association scan (GWAS) identified two novel loci (p-value < 5 x 10(-8)) around SNPs rs745582874, next to gene PBX1, and rs768476991, within gene PCCA, with genotype calling confirmed by Sanger sequencing. Risk alleles at both SNPs were enriched in a family detected through familial aggregation analysis of the phenotype, and both rare alleles co-segregated with AF. The metabolic screening of 175 metabolites, in a subset of individuals, revealed a 41% lower concentration of lysophosphatidylcholine lysoPC a C20:3 in AF cases compared to controls (p-adj = 0.005). The genetic findings, combined with previous evidence, indicate that the two identified GWAS loci may be considered novel genetic rare determinants for AF. Considering additionally the association of lysoPC a C20:3 with AF by metabolic screening, our results demonstrate the valuable contribution of the combined genomic and metabolomic approach in studying AF in large-scale population studies.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Kardiologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Cardiac and Cardiovascular Systems (hsv//eng)
Nyckelord
- atrial fibrillation
- GWAS
- rare alleles
- familial aggregation
- metabolomics
- Cooperative Health Research in South Tyrol
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- Av författaren/redakt...
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Emmert, David B.
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Vukovic, Vladimi ...
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Dordevic, Nikola
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Weichenberger, C ...
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Losi, Chiara
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D'Elia, Yuri
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visa fler...
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Volpato, Claudia
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Hernandes, Vinic ...
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Gögele, Martin
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Foco, Luisa
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Pontali, Giulia
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Mascalzoni, Debo ...
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Domingues, Franc ...
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Paulmichl, Ruper ...
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Pramstaller, Pet ...
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Pattaro, Cristia ...
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Rossini, Alessan ...
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Rainer, Johannes
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Fuchsberger, Chr ...
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De Bortoli, Marz ...
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- MEDICIN OCH HÄLSOVETENSKAP
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- MEDICIN OCH HÄLSOVETENSKAP
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MEDICIN OCH HÄLS ...
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och Klinisk medicin
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Biomolecules
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