Deletions in SERPING1 Lead to Lower C1 Inhibitor Function: Lower C1 Inhibitor Function Can Predict Disease Severity

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dc.contributor.authorGokmen, Nihal Mete
dc.contributor.authorGulbahar, Okan
dc.contributor.authorOnay, Huseyin
dc.contributor.authorKoc, Zeynep Peker
dc.contributor.authorOzgul, Semiha
dc.contributor.authorKose, Timur
dc.contributor.authorGelincik, Asli
dc.contributor.authorBuyukozturk, Suna
dc.contributor.authorSin, Aytul Zerrin
dc.date.accessioned2019-10-27T09:59:14Z
dc.date.available2019-10-27T09:59:14Z
dc.date.issued2019
dc.departmentEge Üniversitesien_US
dc.description.abstractBackground: How genotype affects phenotype in hereditary angioedema with C1 inhibitor deficiency (C1-INH-HAE) has not been totally clarified. In this study, we investigated the relationship between different types of mutations and various phenotypic characteristics. Methods: Clinical data from 81 patients from 47 families were recorded. Complement proteins were analyzed from 61 untreated patients. The coding exons and the exon-intron boundaries of the SERPING1 gene were sequenced, and deletion/duplication analysis with multiple ligation dependent probe amplification was performed. The relationship of complement protein with the mutation type was analyzed by using generalized estimating equations. Results: Thirty-five different mutations (15 novel and 2/15 homozygous) were identified. There was no causative mutation in 6 patients (7.4%). Patients with deletion and large deletion had the lowest (5.05%, 0-18.7; 5.8%, 0-16.5%, respectively), and the none mutation group had the highest C1 inhibitor function (23.3%, 11-78%, p < 0.001). C1 inhibitor function levels decreased as the age of the disease progressed (r = -0.352, p = 0.005). Lower C1 inhibitor function levels caused severer disease (r = -0.404, p = 0.001) and more frequent annual attacks (r = -0.289, p = 0.024). In the off-attack period, C1q levels were lower than normal in 9.8% of the patients. Conclusion: Deletion mutations may represent the most unfavorable effect on C1 inhibitor function. The earlier disease onset age could be a sign for lower C1 inhibitor function levels in adult life. C1q levels could also be low in C1-INH-HAE patients, as in acquired angioedema. Lower C1 inhibitor function can predict disease severity and may have negative impacts on the course of C1-INH-HAE. (c) 2018 S. Karger AG, Baselen_US
dc.identifier.doi10.1159/000492583
dc.identifier.endpage59en_US
dc.identifier.issn1018-2438
dc.identifier.issn1423-0097
dc.identifier.issn1018-2438en_US
dc.identifier.issn1423-0097en_US
dc.identifier.issue1en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.startpage50en_US
dc.identifier.urihttps://doi.org/10.1159/000492583
dc.identifier.urihttps://hdl.handle.net/11454/29588
dc.identifier.volume178en_US
dc.identifier.wosWOS:000456652500006en_US
dc.identifier.wosqualityQ3en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.language.isoenen_US
dc.publisherKargeren_US
dc.relation.ispartofInternational Archives of Allergy and Immunologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectC1 inhibitor functionen_US
dc.subjectC1qen_US
dc.subjectDisease severityen_US
dc.subjectHereditary angioedemaen_US
dc.subjectNovel mutationsen_US
dc.subjectSERPING1 geneen_US
dc.titleDeletions in SERPING1 Lead to Lower C1 Inhibitor Function: Lower C1 Inhibitor Function Can Predict Disease Severityen_US
dc.typeArticleen_US

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