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dc.contributor.authorTurhan Çağlar, Fatma Nihan
dc.contributor.authorIşıksaçan, Nilgün
dc.contributor.authorBıyık, İsmail
dc.contributor.authorOktay Türeli, Hande
dc.contributor.authorKatkat, Fahrettin
dc.contributor.authorKarabulut, Dilay
dc.contributor.authorÖztaş, Didem Melis
dc.contributor.authorUğurlucan, Murat
dc.date.accessioned2019-12-26T06:47:14Z
dc.date.available2019-12-26T06:47:14Z
dc.date.issued2019en_US
dc.identifier.citationTurhan Çağlar, F. N, Işıksaçan, N., Bıyık, İ., Oktay Türeli, H., Katkat, F., Karabulut, D. ... Uğurlucan, M. (2019). Is there any association between rs1303 (Pi*M3) variant of alpha-1 antitrypsin gene and atrial septal aneurysm development? Journal of Cardiac Surgery, 34(11), 1215-1219. https://doi.org/10.1111/jocs.14256en_US
dc.identifier.issn0886-0440
dc.identifier.issn1540-8191
dc.identifier.urihttps://doi.org/10.1111/jocs.14256
dc.identifier.urihttps://hdl.handle.net/20.500.12511/4706
dc.description.abstractAim Atrial septal aneurysm (ASA) is one of the congenital heart defects. The underlying pathophysiology of ASA has not been fully understood yet. Alpha-1 antitrypsin (A1AT) is a serine protease inhibitor glycoprotein, which is held responsible from tissue wall proteolysis if it is deficient in the body. The aim of this study was to investigate A1AT serum levels and the rs1303 (Pi*M3) variant in A1AT gene in patients with ASA. Material and Methods Thirty patients (7 male and 23 female) with isolated ASA and 33 patients (11 male and 22 female) with normal atrial septum on echocardiography were included in this study. A1AT serum levels of study patients were measured quantitatively by the enzyme-linked immune sorbent assay (ELISA) method. The A1AT gene mutation rs1303 was analyzed by genotyping, which is performed on genomic DNA extracted from circulating mononuclear blood cells. Single-nucleotide polymorphism was evaluated on polymerase chain reaction using commercial kits. Results A1AT serum levels were not statistically different among patients with and without ASA (9.52 +/- 4.33 mu g/mL vs 9.83 +/- 5.27 mu g/mL, respectively, P = .80). A1AT homozygote mutation (PiM3M3) was significantly higher in the ASA group than the control group (21 vs 11, OR (95% CI): 6.68 [2.09-21.40], P = .001). A1AT serum levels were similar among patients with normal A1AT allele (PiMM), homozygote variant (PiM3M3), and heterozygote variant (PiMM3) (P = .79). Conclusion This preliminary study revealed that homozygote A1AT rs1303 (PiM3M3) variant is significantly higher in patients with isolated ASA and may be associated with ASA development. Large scale comprehensive studies are needed to validate these results.en_US
dc.language.isoengen_US
dc.publisherWileyen_US
dc.rightsinfo:eu-repo/semantics/embargoedAccessen_US
dc.subjectAlpha-1 Antitrypsin Gene Varianten_US
dc.subjectStrial Septal Aneurysmen_US
dc.subjectPi*M3en_US
dc.subjectrs1303en_US
dc.titleIs there any association between rs1303 (Pi*M3) variant of alpha-1 antitrypsin gene and atrial septal aneurysm development?en_US
dc.typearticleen_US
dc.relation.journalJournal of Cardiac Surgeryen_US
dc.departmentİstanbul Medipol Üniversitesi, Tıp Fakültesi, Cerrahi Tıp Bilimleri Bölümü, Kalp ve Damar Cerrahisi Ana Bilim Dalıen_US
dc.authorid0000-0001-6643-9364en_US
dc.identifier.volume34en_US
dc.identifier.issue11en_US
dc.identifier.startpage1215en_US
dc.identifier.endpage1219en_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.identifier.doi10.1111/jocs.14256en_US


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