Object's details: The rs12526453 Polymorphism in an Intron of the PHACTR1 Gene and Its Association with 5-Year Mortality of Patients with Myocardial Infarction

Provider:Repozytorium Instytutu Biochemii i Biofizyki Polskiej Akademii Nauk

Description

Title:
The rs12526453 Polymorphism in an Intron of the PHACTR1 Gene and Its Association with 5-Year Mortality of Patients with Myocardial Infarction
Creator:
Szpakowicz, Anna;
Kiliszek, Marek;
Pepiński, Witold;
Waszkiewisz, Ewa;
Franaszczyk, Maria;
Skawrońska, Małgorzata;
Płoski, Rafał;
Niemcunowicz-Janica, Anna;
Burzynska, Beata;
Kamiński, Marcin Jakub;
Tułacz, Dorota;
Maciejak, Agata;
Opolski, Grzegorz;
Musiał, Włodzimierz Jerzy;
Kamiński, Karol Adam
Description:
The rs12526453 (C/G) is a single nucleotide polymorphism in an intron of the PHACTR1 gene (phosphatase and actin regulator 1). The C allele is associated with increased risk of coronary artery disease in an unknown mechanism. We investigated its association with long-term overall mortality in patients with ST-elevation myocardial infarction (STEMI) treated invasively. METHODS: Two independent groups of patients with STEMI were analyzed: a derivation group (n= 638) and a validation one (n=348). Genotyping was performed with the TaqMan method. The analyzed end-point was total long term mortality. Additionally, transcriptomic analysis was performed in mononuclear blood leukocytes from rs12526453 CC monozygotes or G allele carriers. RESULTS: In the study group (mean age 62.3 ± 11.9 years; 24.9% of females, n=159), percentages of CC, CG, and GG genotypes were 45.3% (n=289), 44.7% (n=285), and 10% (n=64), respectively. In the 5-year follow-up 105 patients died (16.46%). CC homozygotes had significantly lower mortality compared to other genotypes: 13.1% (n=38) vs. 18.3% in G-allele carriers (n=67), (p=0.017, Cox`s F test). In the validation group 47 patients died within 3 years (13.5%). We confirmed lower mortality of CC homozygotes: 10.1 % (n=18) vs. 16.95% in G-allele carriers (n=29), (p=0.031, Cox`s F test). Transcriptomic analysis revealed a markedly higher expression of NLRP-2 in CC homozygotes. CONCLUSIONS: The rs12526453 CC homozygotes (previously associated with increased risk of myocardial infarction) showed, in 2 independent samples, better long-term survival. The finding of such high effect size, after appropriate validation, could potentially be translated into clinical practice
Object availability:
free access
Date:
2015.06.18
Type:
Article;
PeerReviewed
Language:
English
Format:
application/pdf
Relation: http://eprints.ibb.waw.pl/963 ;http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4472810/pdf/pone.0129820.pdf ;
10.1371/journal.pone.0129820
Subject:
Q Science (General);
R Medicine (General)
Identifier: http://eprints.ibb.waw.pl/963/1/pone.0129820.pdf ;
Szpakowicz, Anna and Kiliszek, Marek and Pepiński, Witold and Waszkiewisz, Ewa and Franaszczyk, Maria and Skawrońska, Małgorzata and Płoski, Rafał and Niemcunowicz-Janica, Anna and Burzynska, Beata and Kamiński, Marcin Jakub and Tułacz, Dorota and Maciejak, Agata and Opolski, Grzegorz and Musiał, Włodzimierz Jerzy and Kamiński, Karol Adam (2015) The rs12526453 Polymorphism in an Intron of the PHACTR1 Gene and Its Association with 5-Year Mortality of Patients with Myocardial Infarction. PloS One, 10 (6). e0129820. ISSN 1932-6203
Data provider:
Repozytorium Instytutu Biochemii i Biofizyki Polskiej Akademii Nauk

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Object's details: The rs12526453 Polymorphism in an Intron of the PHACTR1 Gene and Its Association with 5-Year Mortality of Patients with Myocardial Infarction

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