Collagen remodelling and plasma ascorbic acid levels in patients suspected of inherited bleeding disorders harbouring germline variants in collagen‐related genes

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Fältnamn	Indikatorer	Metadata
000		03950naa a2200385 4500
001		oai:lup.lub.lu.se:724cd0b0-d16c-46fb-9e64-e7086d6c1900
003		SwePub
008		201108s2021 \| \|\|\|\|\|\|\|\|\|\|\|000 \|\|eng\|
024	7	a https://lup.lub.lu.se/record/724cd0b0-d16c-46fb-9e64-e7086d6c19002 URI
024	7	a https://doi.org/10.1111/hae.141952 DOI
040		a (SwePub)lu
041		a engb eng
042		9 SwePub
072	7	a art2 swepub-publicationtype
072	7	a ref2 swepub-contenttype
100	1	a Fager Ferrari, Marcusu Lund University,Lunds universitet,Klinisk koagulationsmedicin, Malmö,Forskargrupper vid Lunds universitet,Clinical Coagulation, Malmö,Lund University Research Groups4 aut0 (Swepub:lu)ma1600fa
245	1 0	a Collagen remodelling and plasma ascorbic acid levels in patients suspected of inherited bleeding disorders harbouring germline variants in collagen‐related genes
264		c 2020-11-07
264	1	b Wiley,c 2021
520		a INTRODUCTION: Variants in collagen-related genes COL1A1, COL3A1, COL5A1 andCOL5A2 are associated with Ehlers-Danlos syndrome (EDS), a heterogeneous groupof connective tissue disorders strongly associated with increased bleeding. Of patientswith incompletely explained bleeding diathesis, a relatively high proportion were shown to harbour at least one heterozygous variant of unknown significance (VUS) in one of these genes, the vast majority without meeting the clinical criteria for EDS.AIM: To investigate the functional consequences of the identified variants by assessingthe formation and degradation of types I, III and V collagen, in addition to plasmalevels of ascorbic acid (AA).METHODS: A total of 31 patients harbouring at least one heterozygous VUS in COL1A1, COL3A1, COL5A1 or COL5A2 and 20 healthy controls were assessed using monoclonal antibodies targeting neo-epitopes specific for collagen formation and degradation. Plasma AA levels were measured in patients using high-performance liquid chromatography.RESULTS: Serum levels of C5M (degradation of type V collagen) were decreased inpatients compared with healthy controls (p = .033). No significant differences werefound in biomarkers for remodelling of types I and III collagen. A significant negativecorrelation between bleeding (ISTH-BAT score) and plasma AA levels was shown(r = −.42; r2 = .17; p = .020). Suboptimal or marginally deficient AA status was foundin 8/31 patients (26%).CONCLUSION: Functional investigations of collagen remodelling were not able to identify any clear associations between the identified variants and increased bleeding.The negative correlation between plasma AA levels and ISTH-BAT score motivatesfurther investigations.
650	7	a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Hematologi0 (SwePub)302022 hsv//swe
650	7	a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Hematology0 (SwePub)302022 hsv//eng
700	1	a Zetterberg, Evau Lund University,Lunds universitet,Klinisk koagulationsmedicin, Malmö,Forskargrupper vid Lunds universitet,Clinical Coagulation, Malmö,Lund University Research Groups4 aut0 (Swepub:lu)med-ezt
700	1	a Rossing, Mariau Copenhagen University Hospital4 aut
700	1	a Manon‐jensen, Tinau Nordic Bioscience AS4 aut
700	1	a Pehrsson, Martinu Nordic Bioscience AS4 aut
700	1	a Karsdal, Morten A.u Nordic Bioscience AS4 aut
700	1	a Lykkesfeldt, Jensu University of Copenhagen4 aut
700	1	a Leinoe, Evau Copenhagen University Hospital4 aut
710	2	a Klinisk koagulationsmedicin, Malmöb Forskargrupper vid Lunds universitet4 org
773	0	t Haemophiliad : Wileyg 27:1, s. 69-77q 27:1<69-77x 1351-8216x 1365-2516
856	4	u http://dx.doi.org/10.1111/hae.14195x freey FULLTEXT
856	4	u https://onlinelibrary.wiley.com/doi/pdfdirect/10.1111/hae.14195
856	4 8	u https://lup.lub.lu.se/record/724cd0b0-d16c-46fb-9e64-e7086d6c1900
856	4 8	u https://doi.org/10.1111/hae.14195

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Av författaren/redakt...: Fager Ferrari, M ...; Zetterberg, Eva; Rossing, Maria; Manon‐jensen, Ti ...; Pehrsson, Martin; Karsdal, Morten ...; visa fler...; Lykkesfeldt, Jen ...; Leinoe, Eva; visa färre...

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