ArticleFrontiers in genetics2020
The FXII c.-4T>C Polymorphism as a Disease Modifier in Patients With Hereditary Angioedema Due to the FXII p.Thr328Lys Variant.
Article in Frontiers in genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 14 citations in OpenAlex.
- Therapeutic Targeting of the Bradykinin B2 Receptor in Immunological and Vascular Diseases: Insights from Kinin Biology to Clinical Outcomes.Clinical reviews in allergy & immunology · 2026Review
- Boolean Networks with Classic and New Updating Modes Applied to Genetic Regulation in Some Familial Diseases.International journal of molecular sciences · 2025Article
- Hereditary Angioedema with Normal C1 Inhibitor: an Updated International Consensus Paper on Diagnosis, Pathophysiology, and Treatment.Clinical reviews in allergy & immunology · 2025Review
- Hereditary angioedema with normal C1 inhibitor associated with carboxypeptidase N deficiency.The journal of allergy and clinical immunology. Global · 2024Article
- A non-coding variant in the Kozak sequence of RARS2 strongly decreases protein levels and causes pontocerebellar hypoplasia.BMC medical genomics · 2023Article
- Myeloid lineage cells evince distinct steady-state level of certain gene groups in dependence on hereditary angioedema severity.Frontiers in genetics · 2023Article
- Contact pathway in surgical and transcatheter aortic valve replacement.Frontiers in cardiovascular medicine · 2022Article
- Biomarkers in Hereditary Angioedema.Clinical reviews in allergy & immunology · 2021Review
- The Genetics of Hereditary Angioedema: A Review.Journal of clinical medicine · 2021Review
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Authors and funding
9 authors at 6 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundHereditary 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.
objectivesTo assess the influence of the c.-4T>C polymorphism on disease expression in 39 Spanish HAE-FXII index patients.
methodsThe 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) The activation of the contact system was quantified by the kallikrein-like activity of plasma in chromogenic assays upon activation with high-molecular-weight dextran sulfate.
resultsThe c.-4CC genotype was overrepresented in the studied cohort: 82% were CC-homozygous (expected frequency = 59%) and 18% were CT-heterozygous (expected frequency = 39%) (
conclusionThe c.-4T>C polymorphism is overrepresented in a Spanish HAE-FXII cohort and significantly influences the degree of contact system activation and the clinical severity of the disease.
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