biostudies-literatureCorvillo FEuropean Hematology Association1033https://www.ebi.ac.uk/biostudies/studies/S-EPMC7549737biostudies-literatureUnknown11<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) ThFrontiers in geneticsThe FXII c.-4T>C Polymorphism as a Disease Modifier in Patients With Hereditary Angioedema Due to the FXII p.Thr328Lys Variant.PMC7549737TRTH205Lopez-Trascasa MLopez-Lera ACorvillo Fde la Morena-Barrio MEEmsley JMarcos-Bravo CCaballero TCorral JVicente VfalseThe FXII c.-4T>C Polymorphism as a Disease Modifier in Patients With Hereditary Angioedema Due to the FXII p.Thr328Lys Variant.<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) Th2020-01-01T00:00:00Z20202026-04-07T22:58:53.624Z2020-11-03T08:02:54ZS-EPMC75497373313313710.3389/fgene.2020.01033