{"id":5996,"date":"2026-10-19T09:48:21","date_gmt":"2026-10-19T09:48:21","guid":{"rendered":"https:\/\/phd.hi.is\/doktorsvorn\/doktorsvorn-i-laeknavisindum-rosa-bjork-thorolfsdottir\/"},"modified":"2026-10-19T09:48:21","modified_gmt":"2026-10-19T09:48:21","slug":"doktorsvorn-i-laeknavisindum-rosa-bjork-thorolfsdottir","status":"publish","type":"phd_defence","link":"https:\/\/phd.hi.is\/en\/doktorsvorn\/doktorsvorn-i-laeknavisindum-rosa-bjork-thorolfsdottir\/","title":{"rendered":"Doktorsv\u00f6rn \u00ed l\u00e6knav\u00edsindum &#8211; R\u00f3sa Bj\u00f6rk \u00de\u00f3r\u00f3lfsd\u00f3ttir"},"content":{"rendered":"<div class=\"field-items\">\n<div class=\"field-item even\" property=\"content:encoded\">\n<p><strong>Fr\u00e9ttatilkynning vegna doktorsvarnar<\/strong><\/p>\n<p>\u00a0<\/p>\n<p>F\u00f6studaginn 13. september ver R\u00f3sa Bj\u00f6rk \u00de\u00f3r\u00f3lfsd\u00f3ttir doktorsritger\u00f0 s\u00edna \u00ed l\u00e6knav\u00edsindum vi\u00f0 L\u00e6knadeild H\u00e1sk\u00f3la \u00cdslands. Ritger\u00f0in ber heiti\u00f0: <strong>\u00c1hrif erf\u00f0abreytileika \u00e1 starfsemi hjartans og hjartasj\u00fakd\u00f3ma.<\/strong> <strong>The effects of sequence variants on cardiac function and disease.<\/strong><\/p>\n<p>Andm\u00e6lendur eru dr. Morten Olesen, d\u00f3sent vi\u00f0 Kaupmannahafnarh\u00e1sk\u00f3la, og dr. Eir\u00edkur Steingr\u00edmsson, pr\u00f3fessor vi\u00f0 L\u00e6knadeild.<\/p>\n<p>Umsj\u00f3narkennari og lei\u00f0beinandi var dr. Dav\u00ed\u00f0 O. Arnar, gestapr\u00f3fessor vi\u00f0 L\u00e6knadeild. \u00de\u00e1 var dr. Unnur \u00deorsteinsd\u00f3ttir, framkv\u00e6mdastj\u00f3ri ranns\u00f3kna hj\u00e1 \u00cdslenskri erf\u00f0agreiningu (\u00cdE), lei\u00f0beinandi og Hilma H\u00f3lm, yfirma\u00f0ur hjartaranns\u00f3kna hj\u00e1 \u00cdE, me\u00f0lei\u00f0beinandi. Auk \u00feeirra s\u00e1tu \u00ed doktorsnefnd dr. Dan\u00edel F. Gu\u00f0bjartsson, yfirma\u00f0ur t\u00f6lfr\u00e6\u00f0ideildar \u00cdE, og dr. Karl K. Andersen, pr\u00f3fessor vi\u00f0 L\u00e6knadeild.<\/p>\n<p>Engilbert Sigur\u00f0sson, pr\u00f3fessor og forseti L\u00e6knadeildar, stj\u00f3rnar ath\u00f6fninni sem fer fram \u00ed H\u00e1t\u00ed\u00f0asal H\u00e1sk\u00f3la \u00cdslands og hefst kl. 13:00.<\/p>\n<p>\u00a0<\/p>\n<p><strong>\u00c1grip af ranns\u00f3kn<\/strong><\/p>\n<p>G\u00e1ttatif er algengast vi\u00f0varandi hjartsl\u00e1ttartruflana en n\u00faverandi skilningur \u00e1 fl\u00f3kinni meinger\u00f0 sj\u00fakd\u00f3msins er takmarka\u00f0ur. Tilgangur verkefnisins var a\u00f0 framkv\u00e6ma v\u00ed\u00f0t\u00e6ka erf\u00f0amengisleit til a\u00f0 bera kennsl \u00e1 \u00e1\u00f0ur \u00f3\u00feekkt tengsl milli erf\u00f0abreytileika og g\u00e1ttatifs. Jafnframt var markmi\u00f0i\u00f0 a\u00f0 \u00f6\u00f0last inns\u00fdn \u00ed hvernig erf\u00f0abreytileikar hafa \u00e1hrif me\u00f0 \u00fev\u00ed a\u00f0 kanna tengsl \u00feeirra vi\u00f0 a\u00f0ra hjartasj\u00fakd\u00f3ma og hjartal\u00ednuritsbreytur. \u00dear sem erf\u00f0abreytileiki \u00ed MYH6 reyndist auka l\u00edkur \u00e1 b\u00e6\u00f0i g\u00e1ttatifi og me\u00f0f\u00e6ddum \u00f3s\u00e6\u00f0ar\u00ferengslum var einnig framkv\u00e6md v\u00ed\u00f0t\u00e6k erf\u00f0amengisleit fyrir me\u00f0f\u00e6dd \u00f3s\u00e6\u00f0ar\u00ferengsli.<\/p>\n<p>Ranns\u00f3knin leiddi \u00ed lj\u00f3s \u00e1\u00f0ur \u00f3\u00feekkt tengsl milli g\u00e1ttatifs og erf\u00f0abreytileika \u00ed \u00fatr\u00f6\u00f0um \u00feriggja gena sem \u00f6ll gegna hlutverki \u00ed vi\u00f0haldi e\u00f0lilegrar byggingar hjartans; PLEC, RPL3L og MYZAP. St\u00f3r safnranns\u00f3kn me\u00f0al r\u00famlega millj\u00f3n \u00fe\u00e1tttakenda leiddi \u00ed lj\u00f3s \u00e1\u00f0ur \u00f3\u00feekkt tengsl \u00e1 milli 80 erf\u00f0abreytileika og g\u00e1ttatifs. Genin sem \u00fe\u00f3ttu l\u00edklegust til a\u00f0 \u00fatsk\u00fdra tengslin hafa \u00e1hrif \u00e1 \u00fdmsa ferla, m.a. byggingu hjartans. Erf\u00f0abreytileikar sem auka l\u00edkur \u00e1 g\u00e1ttatifi h\u00f6f\u00f0u fj\u00f6lbreytt \u00e1hrif \u00e1 hjartal\u00ednuritsbreytur sem bendir til a\u00f0 \u00feeir auki l\u00edkur \u00e1 g\u00e1ttatifi me\u00f0 \u00f3l\u00edkum h\u00e6tti. V\u00ed\u00f0t\u00e6k erf\u00f0amengisleit fyrir me\u00f0f\u00e6dd \u00f3s\u00e6\u00f0ar\u00ferengsli fann mislestursst\u00f6kkbreytinguna p.Arg721Trp \u00ed MYH6 sem \u00fatsk\u00fdrir ein um 20% tilfella hjartagallans \u00e1 \u00cdslandi. Samanlagt veita ni\u00f0urst\u00f6\u00f0urnar aukinn skilning \u00e1 meinger\u00f0 b\u00e6\u00f0i g\u00e1ttatifs og me\u00f0f\u00e6ddra \u00f3s\u00e6\u00f0ar\u00ferengsla, en sl\u00edk inns\u00fdn er nau\u00f0synlegt skref \u00ed \u00e1tt a\u00f0 b\u00e6ttum me\u00f0fer\u00f0ar\u00farr\u00e6\u00f0um.<\/p>\n<p><strong>\u00a0<\/strong><\/p>\n<p><strong>Abstract<\/strong><\/p>\n<p>Atrial fibrillation (AF) is the most common sustained cardiac arrhythmia and its complex pathophysiology is incompletely understood. The aim of this doctoral research was to perform genome-wide association studies (GWASs) on AF and search for novel associations. Furthermore, to gain insights into the mechanisms by which novel and published variants affect AF risk by assessing their effects on other cardiovascular diseases and on normal cardiac conduction, using electrocardiogram (ECG) measurements. Through association analysis we observed that one of the strongest AF variants, in MYH6, also increases risk of coarctation of the aorta (CoA), thus a GWAS on CoA was also conducted.<\/p>\n<p>GWASs on AF resulted in novel AF associations with coding variants in three genes which have a role in maintaining cardiac structure; PLEC, RPL3L and MYZAP. Through a meta-analysis involving over one million participants from six contributing cohorts, 80 novel AF loci were identified. AF variants had diverse effects on ECG measurements, suggesting fundamentally different categories of mechanisms contributing to the development of AF. The missense variant p.Arg721Trp in the sarcomere gene MYH6 was found to explain approximately 20% of CoA cases in Iceland. Combined the results increase understanding of the pathophysiology of both AF and CoA, thus providing knowledge that will hopefully translate into advances in treatment.<\/p>\n<p><strong>\u00a0<\/strong><\/p>\n<p><strong>Um doktorsefni\u00f0<\/strong><\/p>\n<p>R\u00f3sa Bj\u00f6rk \u00de\u00f3r\u00f3lfsd\u00f3ttir er f\u00e6dd \u00e1ri\u00f0 1988. H\u00fan lauk st\u00fadentspr\u00f3fi af n\u00e1tt\u00farufr\u00e6\u00f0ibraut fr\u00e1 Menntask\u00f3lanum vi\u00f0 Hamrahl\u00ed\u00f0 \u00e1ri\u00f0 2007, BS-pr\u00f3fi \u00ed l\u00e6knisfr\u00e6\u00f0i fr\u00e1 H\u00e1sk\u00f3la \u00cdslands \u00e1ri\u00f0 2010 og Cand. med. gr\u00e1\u00f0u fr\u00e1 sama sk\u00f3la \u00e1ri\u00f0 2014. R\u00f3sa Bj\u00f6rk vann doktorsverkefni sitt hj\u00e1 \u00cdslenskri erf\u00f0agreiningu \u00fear sem h\u00fan hefur veri\u00f0 \u00ed fullu starfi fr\u00e1 \u00e1rsbyrjun 2016. Foreldrar R\u00f3su Bjarkar eru Margr\u00e9t Baldursd\u00f3ttir og \u00de\u00f3r\u00f3lfur \u00c1rnason. R\u00f3sa Bj\u00f6rk er gift J\u00fal\u00edusi Kristj\u00e1nssyni l\u00e6kni og eiga \u00feau synina Kristj\u00e1n \u00c1rna 5 \u00e1ra og \u00de\u00f3r\u00f3lf Bj\u00f6rn 2 \u00e1ra.<\/p>\n<\/div><\/div>","protected":false},"featured_media":1203,"template":"","meta":{"site-sidebar-layout":"default","site-content-layout":"","ast-site-content-layout":"default","site-content-style":"default","site-sidebar-style":"default","ast-global-header-display":"","ast-banner-title-visibility":"","ast-main-header-display":"","ast-hfb-above-header-display":"","ast-hfb-below-header-display":"","ast-hfb-mobile-header-display":"","site-post-title":"","ast-breadcrumbs-content":"","ast-featured-img":"","footer-sml-layout":"","ast-disable-related-posts":"","theme-transparent-header-meta":"","adv-header-id-meta":"","stick-header-meta":"","header-above-stick-meta":"","header-main-stick-meta":"","header-below-stick-meta":"","astra-migrate-meta-layouts":"default","ast-page-background-enabled":"default","ast-page-background-meta":{"desktop":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"tablet":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"mobile":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""}},"ast-content-background-meta":{"desktop":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"tablet":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"mobile":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""}},"_phd_date_start":"2019-09-13T13:00:00+00:00","_phd_date_end":"2019-09-13T16:00:00+00:00","_phd_location":"A\u00f0albygging H\u00e1t\u00ed\u00f0arsalur","_phd_admission":"A\u00f0gangur \u00f3keypis","_phd_thesis_title":"\u00c1hrif erf\u00f0abreytileika \u00e1 starfsemi hjartans og hjartasj\u00fakd\u00f3ma. The effects of sequence variants on cardiac function and disease","_phd_source_url":"https:\/\/gamli.hi.is\/vidburdir\/doktorsvorn_i_laeknavisindum_rosa_bjork_thorolfsdottir","_phd_source_node_id":"323365","_phd_source_type":"vidburdir","_phd_member_id":198,"footnotes":""},"phd_school":[60,67],"phd_discipline":[69],"class_list":["post-5996","phd_defence","type-phd_defence","status-publish","has-post-thumbnail","hentry","phd_school-heilbrigdisvisindasvid","phd_school-laeknadeild","phd_discipline-phd-i-laeknavisindum"],"_links":{"self":[{"href":"https:\/\/phd.hi.is\/en\/wp-json\/wp\/v2\/phd_defence\/5996","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/phd.hi.is\/en\/wp-json\/wp\/v2\/phd_defence"}],"about":[{"href":"https:\/\/phd.hi.is\/en\/wp-json\/wp\/v2\/types\/phd_defence"}],"version-history":[{"count":0,"href":"https:\/\/phd.hi.is\/en\/wp-json\/wp\/v2\/phd_defence\/5996\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/phd.hi.is\/en\/wp-json\/wp\/v2\/media\/1203"}],"wp:attachment":[{"href":"https:\/\/phd.hi.is\/en\/wp-json\/wp\/v2\/media?parent=5996"}],"wp:term":[{"taxonomy":"phd_school","embeddable":true,"href":"https:\/\/phd.hi.is\/en\/wp-json\/wp\/v2\/phd_school?post=5996"},{"taxonomy":"phd_discipline","embeddable":true,"href":"https:\/\/phd.hi.is\/en\/wp-json\/wp\/v2\/phd_discipline?post=5996"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}