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001-es BibID:	BIBFORM063574
035-os BibID:	(WoS)000374979000010 (Scopus)84959145645
Első szerző:	Gindele Réka (molekuláris biológus)
Cím:	Founder effect is responsible for the p.Leu131Phe heparin-binding-site antithrombin mutation common in Hungary : phenotype analysis in a large cohort / R. Gindele, Z. Olah, P. Ilonczai, M. Speker, A. Udvari, A. Selmeczi, G. Pfliegler, E. Marjan, B. Kovacs, Z. Boda, L. Muszbek, Z. Bereczky
Dátum:	2016
ISSN:	1538-7933
Megjegyzések:	Background: Antithrombin (AT) is a key regulatorof the coagulation. In type II deficiency, the heparinbinding-site defect (type II HBS) is considered to be relativelylow thrombosis risk. Objectives: Our aims were tosearch for SERPINC1 mutation(s) and to describe the clinicaland laboratory phenotype of a large number of ATBudapest3 (ATBp3, p.Leu131Phe) carriers and confirm thepresence of a founder effect. Patients/Methods: AT-deficientpatients were recruited and carriers of ATBp3,n = 102 (63 families) were selected. To investigate the foundereffect, eight intragenic single nucleotide polymorphisms,a 50-length dimorphism, and five microsatellitemarkers were detected. Clinical and laboratory data of thepatients were collected and analyzed. Results: In AT deficiency,16 different causative mutations were found, andthe great majority of patients were of type II HBS subtype.Most of them (n = 102/118, 86.5%) carried the ATBp3mutation. The ATBp3 mutant allele was associated withone single haplotype, while different haplotypes weredetected in the case of normal allele. The anti?factor Xa?based AT activity assay that we used could detect allATBp3 patients with high sensitivity in our cohort. ATBp3homozygosity (n = 26) was associated with thrombosis at ayoung age and conferred a high thrombotic risk. Half ofthe heterozygotes (n = 41/76, 53.9%) also had venous and/or arterial thrombosis, and pregnancy complications werealso recorded. Conclusion: In Hungary, the founder mutation,ATBp3, is the most common AT deficiency. Ourstudy is the first in which the clinical characterization ofATBp3 mutation was executed in a large population.
Tárgyszavak:	Orvostudományok Elméleti orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban folyóiratcikk antithrombin III deficiency antithrombin III thrombophilia founder effect venous thromboembolism
Megjelenés:	Journal Of Thrombosis And Haemostasis. - 14 : 4 (2016), p. 704-715. -
További szerzők:	Oláh Zoltán Ilonczai Péter (1977-) (orvos, belgyógyász, haematológus szakorvos) Speker Marianna Udvari Á. Selmeczi Anna (1982-) (orvos) Pfliegler György (1949-) (belgyógyász, hematológus, labor szakorvos) Marján Erzsébet Kovács Bettina (1975-) (orvos) Boda Zoltán (1947-) (belgyógyász, haematologus, klinikai onkológus) Muszbek László (1942-) (haematológus, kutató orvos) Bereczky Zsuzsanna (1974-) (orvosi laboratóriumi diagnosztika szakorvos)
Pályázati támogatás:	PD101120 OTKA K116228 OTKA TÁMOP-4.2.2.A-11/1/KONV-2012-0045 TÁMOP Trombózis Kutató Központ Kutatócsoport 11003 MTA TKI227 MTA
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