Search: id:"swepub:oai:DiVA.org:su-141364" >
Massive parallel se...
-
Dalin, Martin,1982Gothenburg University,Göteborgs universitet,Institutionen för medicin, avdelningen för molekylär och klinisk medicin,Institute of Medicine, Department of Molecular and Clinical Medicine
(author)
Massive parallel sequencing questions the pathogenic role of missense variants in dilated cardiomyopathy
- Article/chapterEnglish2017
Publisher, publication year, extent ...
-
Elsevier BV,2017
-
printrdacarrier
Numbers
-
LIBRIS-ID:oai:DiVA.org:su-141364
-
https://urn.kb.se/resolve?urn=urn:nbn:se:su:diva-141364URI
-
https://doi.org/10.1016/j.ijcard.2016.11.066DOI
-
http://kipublications.ki.se/Default.aspx?queryparsed=id:135207248URI
-
https://gup.ub.gu.se/publication/245808URI
Supplementary language notes
-
Language:English
-
Summary in:English
Part of subdatabase
Classification
-
Subject category:ref swepub-contenttype
-
Subject category:art swepub-publicationtype
Notes
-
Background: Germline genetic variants are an important cause of dilated cardiomyopathy (DCM). However, recent sequencing studies have revealed rare variants in DCM-associated genes also in individuals without known heart disease. In this study, we investigate variant prevalence and genotype-phenotype correlations in Swedish DCM patients, and compare their genetic variants to those detected in reference cohorts. Methods and results: We sequenced the coding regions of 41 DCM-associated genes in 176 unrelated patients with idiopathic DCM and found 102 protein-altering variants with an allele frequency of <0.04% in reference cohorts; the majority were missense variants not previously described in DCM. Fifty-five (31%) patients had one variant, and 24 (14%) patients had two or more variants in the analysed genes. Detection of genetic variants in any gene, and in LMNA, MYII7 or TTN alone, was associated with early onset disease and reduced transplant-free survival. As expected, nonsense and frameshift variants were more common in DCM patients than in healthy individuals of the reference cohort 1000 Genomes Europeans. Surprisingly however, the prevalence, conservation and pathogenicity scores, and localization of missense variants were similar in DCM patients and healthy reference individuals. Conclusion: To our knowledge, this is the first study to identify correlations between genotype and prognosis when sequencing a large number of genes in unselected DCM patients. The similar distribution of missense variants in DCM patients and healthy reference individuals questions the pathogenic role of many variants, and suggests that results from genetic testing of DCM patients should be interpreted with caution.
Subject headings and genre
Added entries (persons, corporate bodies, meetings, titles ...)
-
Engström, Pär G.Stockholms universitet,Institutionen för biokemi och biofysik,Science for Life Laboratory (SciLifeLab)(Swepub:su)pengs
(author)
-
Ivarsson, Emil G.,1989Gothenburg University,Göteborgs universitet,Institutionen för medicin, avdelningen för molekylär och klinisk medicin,Institute of Medicine, Department of Molecular and Clinical Medicine(Swepub:gu)xivaem
(author)
-
Unneberg, PerStockholms universitet,Institutionen för biokemi och biofysik,Science for Life Laboratory (SciLifeLab)
(author)
-
Light, SaraStockholms universitet,Institutionen för biokemi och biofysik,Science for Life Laboratory (SciLifeLab)(Swepub:su)light
(author)
-
Schaufelberger, Maria,1954Gothenburg University,Göteborgs universitet,Institutionen för medicin, avdelningen för molekylär och klinisk medicin,Institute of Medicine, Department of Molecular and Clinical Medicine(Swepub:gu)xscmar
(author)
-
Gilljam, ThomasGothenburg University,Göteborgs universitet,Institutionen för medicin, avdelningen för molekylär och klinisk medicin,Institute of Medicine, Department of Molecular and Clinical Medicine(Swepub:gu)xgillt
(author)
-
Andersson, Bert,1952
(author)
-
Bergö, Martin O.,1970Gothenburg University,Göteborgs universitet,Karolinska Institutet,Institutionen för medicin, avdelningen för molekylär och klinisk medicin,Institute of Medicine, Department of Molecular and Clinical Medicine(Swepub:gu)xbmarl
(author)
-
Göteborgs universitetInstitutionen för medicin, avdelningen för molekylär och klinisk medicin
(creator_code:org_t)
Related titles
-
In:International Journal of Cardiology: Elsevier BV228, s. 742-7480167-52731874-1754
Internet link
Find in a library
To the university's database
- By the author/editor
-
Dalin, Martin, 1 ...
-
Engström, Pär G.
-
Ivarsson, Emil G ...
-
Unneberg, Per
-
Light, Sara
-
Schaufelberger, ...
-
show more...
-
Gilljam, Thomas
-
Andersson, Bert, ...
-
Bergö, Martin O. ...
-
show less...
- About the subject
-
- MEDICAL AND HEALTH SCIENCES
-
MEDICAL AND HEAL ...
-
and Basic Medicine
-
and Medical Genetics
-
- MEDICAL AND HEALTH SCIENCES
-
MEDICAL AND HEAL ...
-
and Clinical Medicin ...
-
and Hematology
-
- MEDICAL AND HEALTH SCIENCES
-
MEDICAL AND HEAL ...
-
and Clinical Medicin ...
-
and Cardiac and Card ...
- Articles in the publication
-
International Jo ...
- By the university
-
Stockholm University
-
Karolinska Institutet
-
University of Gothenburg