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Targeted high-throu...
Targeted high-throughput sequencing of candidate genes for chronic obstructive pulmonary disease
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- Matsson, H. (författare)
- Karolinska Institutet,Karolinska Inst, Dept Biosci & Nutr, SE-14183 Huddinge, Sweden.;Karolinska Inst, Dept Womens & Childrens Hlth, Stockholm, Sweden.
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- Soderhall, C. (författare)
- Karolinska Institutet,Karolinska Inst, Dept Biosci & Nutr, SE-14183 Huddinge, Sweden.;Karolinska Inst, Dept Womens & Childrens Hlth, Stockholm, Sweden.
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- Einarsdottir, E. (författare)
- Karolinska Institutet,Karolinska Inst, Dept Biosci & Nutr, SE-14183 Huddinge, Sweden.;Univ Helsinki, Mol Neurol Res Program, Helsinki, Finland.;Univ Helsinki, Folkhalsan Inst Genet, Helsinki, Finland.
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- Lamontagne, M. (författare)
- Inst Univ Cardiol & Pneumol Quebec, Ville De Quebec, PQ, Canada.
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- Gudmundsson, Sanna (författare)
- Uppsala universitet,Medicinsk genetik och genomik,Science for Life Laboratory, SciLifeLab
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- Backman, Helena (författare)
- Umeå universitet,Yrkes- och miljömedicin,The OLIN Unit,Umea Univ, Dept Publ Hlth & Clin Med, Div Occupat & Environm Med, Umea, Sweden.
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- Lindberg, Anne (författare)
- Umeå universitet,Medicin,Umea Univ, Div Med, Dept Publ Hlth & Clin Med, Umea, Sweden.
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- Rönmark, Eva (författare)
- Umeå universitet,Yrkes- och miljömedicin,The OLIN Unit,Umea Univ, Dept Publ Hlth & Clin Med, Div Occupat & Environm Med, Umea, Sweden.
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- Kere, J. (författare)
- Karolinska Institutet,Karolinska Inst, Dept Biosci & Nutr, SE-14183 Huddinge, Sweden.;Univ Helsinki, Mol Neurol Res Program, Helsinki, Finland.;Univ Helsinki, Folkhalsan Inst Genet, Helsinki, Finland.
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- Sin, D. (författare)
- Univ British Columbia, Ctr Heart Lung Innovat, St Pauls Hosp, Vancouver, BC, Canada.,Univ Groningen, GRIAC Res Inst, Ctr Groningen, Groningen, Netherlands.
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Postma, D. S. (författare)
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- Lundbäck, Bo, 1948 (författare)
- Gothenburg University,Göteborgs universitet,Krefting Research Centre,Univ Gothenburg, Inst Med, Krefting Res Ctr, Gothenburg, Sweden.
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- Klar, Joakim (författare)
- Uppsala universitet,Medicinsk genetik och genomik,Science for Life Laboratory, SciLifeLab
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- Bossé, Yohan (författare)
- Inst Univ Cardiol & Pneumol Quebec, Ville De Quebec, PQ, Canada.;Univ Laval, Dept Mol Med, Quebec City, PQ G1K 7P4, Canada.
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Karolinska Institutet Karolinska Inst, Dept Biosci & Nutr, SE-14183 Huddinge, Sweden;Karolinska Inst, Dept Womens & Childrens Hlth, Stockholm, Sweden. (creator_code:org_t)
- 2016-11-11
- 2016
- Engelska.
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Ingår i: Bmc Pulmonary Medicine. - : Springer Science and Business Media LLC. - 1471-2466. ; 16
- Relaterad länk:
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https://bmcpulmmed.b...
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https://doi.org/10.1...
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https://umu.diva-por... (primary) (Raw object)
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https://uu.diva-port... (primary) (Raw object)
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https://gup.ub.gu.se...
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https://doi.org/10.1...
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https://urn.kb.se/re...
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http://kipublication...
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https://urn.kb.se/re...
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Abstract
Ämnesord
Stäng
- Background: Reduced lung function in patients with chronic obstructive pulmonary disease (COPD) is likely due to both environmental and genetic factors. We report here a targeted high-throughput DNA sequencing approach to identify new and previously known genetic variants in a set of candidate genes for COPD. Methods: Exons in 22 genes implicated in lung development as well as 61 genes and 10 genomic regions previously associated with COPD were sequenced using individual DNA samples from 68 cases with moderate or severe COPD and 66 controls matched for age, gender and smoking. Cases and controls were selected from the Obstructive Lung Disease in Northern Sweden (OLIN) studies. Results: In total, 37 genetic variants showed association with COPD (p < 0.05, uncorrected). Several variants previously discovered to be associated with COPD from genetic genome-wide analysis studies were replicated using our sample. Two high-risk variants were followed-up for functional characterization in a large eQTL mapping study of 1,111 human lung specimens. The C allele of a synonymous variant, rs8040868, predicting a p.(S45=) in the gene for cholinergic receptor nicotinic alpha 3 (CHRNA3) was associated with COPD (p = 8.8 x 10(-3)). This association remained (p = 0.003 and OR = 1.4, 95 % CI 1.1-1.7) when analysing all available cases and controls in OLIN (n = 1,534). The rs8040868 variant is in linkage disequilibrium with rs16969968 previously associated with COPD and altered expression of the CHRNA5 gene. A follow-up analysis for detection of expression quantitative trait loci revealed that rs8040868-C was found to be significantly associated with a decreased expression of the nearby gene cholinergic receptor, nicotinic, alpha 5 (CHRNA5) in lung tissue. Conclusion: Our data replicate previous result suggesting CHRNA5 as a candidate gene for COPD and rs8040868 as a risk variant for the development of COPD in the Swedish population.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Hälsovetenskap -- Arbetsmedicin och miljömedicin (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Health Sciences -- Occupational Health and Environmental Health (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Lungmedicin och allergi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Respiratory Medicine and Allergy (hsv//eng)
Nyckelord
- COPD
- Sequencing
- eQTL
- Association
- Lung development
- CHRNA5
- genome-wide association
- northern sweden
- respiratory symptoms
- lung-disease
- risk-factors
- protein-d
- copd
- population
- identification
- polymorphisms
- Respiratory System
- COPD
Publikations- och innehållstyp
- ref (ämneskategori)
- art (ämneskategori)
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Till lärosätets databas
- Av författaren/redakt...
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Matsson, H.
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Soderhall, C.
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Einarsdottir, E.
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Lamontagne, M.
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Gudmundsson, San ...
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Backman, Helena
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visa fler...
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Lindberg, Anne
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Rönmark, Eva
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Kere, J.
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Sin, D.
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Postma, D. S.
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Lundbäck, Bo, 19 ...
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Klar, Joakim
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Bossé, Yohan
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- Om ämnet
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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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- MEDICIN OCH HÄLSOVETENSKAP
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MEDICIN OCH HÄLS ...
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och Hälsovetenskap
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och Arbetsmedicin oc ...
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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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och Lungmedicin och ...
- Artiklar i publikationen
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Bmc Pulmonary Me ...
- Av lärosätet
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Göteborgs universitet
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Umeå universitet
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Karolinska Institutet
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Uppsala universitet