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Sökning: onr:"swepub:oai:DiVA.org:umu-161557" > Heritability in gen...

LIBRIS Formathandbok  (Information om MARC21)
FältnamnIndikatorerMetadata
00003670naa a2200553 4500
001oai:DiVA.org:umu-161557
003SwePub
008190710s2019 | |||||||||||000 ||eng|
0247 a https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-1615572 URI
0247 a https://doi.org/10.1136/openhrt-2018-0009292 DOI
040 a (SwePub)umu
041 a engb eng
042 9 SwePub
072 7a ref2 swepub-contenttype
072 7a art2 swepub-publicationtype
1001 a Jansweijer, Joeri A.4 aut
2451 0a Heritability in genetic heart disease :b the role of genetic background
264 c 2019-05-28
264 1b BMJ Publishing Group Ltd,c 2019
338 a electronic2 rdacarrier
520 a Background: Mutations in genes encoding ion channels or sarcomeric proteins are an important cause of hereditary cardiac disease. However, the severity of the resultant disease varies considerably even among those with an identical mutation. Such clinical variation is often thought to be explained largely by differences in genetic background or ‘modifier genes’. We aimed to test the prediction that identical genetic backgrounds result in largely similar clinical expression of a cardiac disease causing mutation, by studying the clinical expression of mutations causing cardiac disease in monozygotic twins.Methods: We compared first available clinical information on 46 monozygotic twin pairs and 59 control pairs that had either a hereditary cardiomyopathy or channelopathy.Results: Despite limited power of this study, we found significant heritability for corrected QT interval (QTc) in long QT syndrome (LQTS). We could not detect significant heritability for structural traits, but found a significant environmental effect on thickness of the interventricular septum in hypertrophic cardiomyopathy.Conclusions: Our study confirms previously found robust heritability for electrical traits like QTc in LQTS, and adds information on low or lacking heritability for structural traits in heritable cardiomyopathies. This may steer the search for genetic modifiers in heritable cardiac disease.
650 7a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng
7001 a van Spaendonck-Zwarts, Karin Y.4 aut
7001 a Tanck, Michael W. T.4 aut
7001 a van Tintelen, J. Peter4 aut
7001 a Christiaans, Imke4 aut
7001 a van der Smagt, Jasper4 aut
7001 a Vermeer, Alexa4 aut
7001 a Bos, J. Martijn4 aut
7001 a Moss, Arthur J.4 aut
7001 a Swan, Heikki4 aut
7001 a Priori, Sylvia4 aut
7001 a Rydberg, Annikau Umeå universitet,Pediatrik4 aut0 (Swepub:umu)anry0014
7001 a Tfelt-Hansen, Jacob4 aut
7001 a Ackerman, Michael4 aut
7001 a Olivotto, Iacopo4 aut
7001 a Charron, Philippe4 aut
7001 a Gimeno, Juan R.4 aut
7001 a van den Berg, Maarten4 aut
7001 a Wilde, Arthur4 aut
7001 a Pinto, Yigal M.4 aut
7102 a Umeå universitetb Pediatrik4 org
7730 t Open heartd : BMJ Publishing Group Ltdg 6:1q 6:1x 2053-3624
8564 u https://doi.org/10.1136/openhrt-2018-000929y Fulltext
8564 u https://umu.diva-portal.org/smash/get/diva2:1336809/FULLTEXT01.pdfx primaryx Raw objecty fulltext:print
8564 u https://openheart.bmj.com/content/openhrt/6/1/e000929.full.pdf
8564 8u https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-161557
8564 8u https://doi.org/10.1136/openhrt-2018-000929

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