{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Corvillo F"],"funding":["European Hematology Association"],"pagination":["1033"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC7549737"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["11"],"pubmed_abstract":["<h4>Background</h4>Hereditary angioedema due to the Thr328Lys variant in the coagulation factor XII (HAE-FXII) affects mainly women in whom the symptomatology is dependent on high estrogen levels. Clinical variability and incomplete penetrance are challenging features that hinder the diagnosis and management of HAE-FXII. The c.-4T>C Kozak polymorphism is the only common variation accounting for FXII plasma levels and was previously shown to modify the course of HAE due to C1-Inhibitor deficiency.<h4>Objectives</h4>To assess the influence of the c.-4T>C polymorphism on disease expression in 39 Spanish HAE-FXII index patients.<h4>Methods</h4>The c.-4T>C polymorphism was sequenced by the standard Sanger method, and HAE severity was calculated according to the score by Cumming et al. (2003) Th"],"journal":["Frontiers in genetics"],"pubmed_title":["The FXII c.-4T>C Polymorphism as a Disease Modifier in Patients With Hereditary Angioedema Due to the FXII p.Thr328Lys Variant."],"pmcid":["PMC7549737"],"funding_grant_id":["TRTH205"],"pubmed_authors":["Lopez-Trascasa M","Lopez-Lera A","Corvillo F","de la Morena-Barrio ME","Emsley J","Marcos-Bravo C","Caballero T","Corral J","Vicente V"],"additional_accession":[]},"is_claimable":false,"name":"The FXII c.-4T>C Polymorphism as a Disease Modifier in Patients With Hereditary Angioedema Due to the FXII p.Thr328Lys Variant.","description":"<h4>Background</h4>Hereditary angioedema due to the Thr328Lys variant in the coagulation factor XII (HAE-FXII) affects mainly women in whom the symptomatology is dependent on high estrogen levels. Clinical variability and incomplete penetrance are challenging features that hinder the diagnosis and management of HAE-FXII. The c.-4T>C Kozak polymorphism is the only common variation accounting for FXII plasma levels and was previously shown to modify the course of HAE due to C1-Inhibitor deficiency.<h4>Objectives</h4>To assess the influence of the c.-4T>C polymorphism on disease expression in 39 Spanish HAE-FXII index patients.<h4>Methods</h4>The c.-4T>C polymorphism was sequenced by the standard Sanger method, and HAE severity was calculated according to the score by Cumming et al. (2003) Th","dates":{"release":"2020-01-01T00:00:00Z","publication":"2020","modification":"2026-04-07T22:58:53.624Z","creation":"2020-11-03T08:02:54Z"},"accession":"S-EPMC7549737","cross_references":{"pubmed":["33133137"],"doi":["10.3389/fgene.2020.01033"]}}