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Cardiologia Croatica, Vol. 17 No. 9-10, 2022.

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https://doi.org/10.15836/ccar2022.178

Association of gene polymorphism MTHFR C677T and MTHFR A1298C with atrial fibrillation

Rea Levicki orcid id orcid.org/0000-0003-3687-1310 ; Požega General Hospital, Požega, Croatia
Tamara Božina orcid id orcid.org/0000-0001-5883-7979 ; University of Zagreb School of Medicine, Zagreb, Croatia
Nada Božina orcid id orcid.org/0000-0001-6016-1699 ; University Hospital Centre Zagreb, Zagreb, Croatia
Maja Sirovica orcid id orcid.org/0000-0002-4751-0513 ; University of Zagreb School of Medicine, Zagreb, Croatia
Dubravka Memić orcid id orcid.org/0000-0003-0398-4618 ; University Hospital Centre Zagreb, Zagreb, Croatia
Martina Matovinović orcid id orcid.org/0000-0002-6325-7394 ; University Hospital Centre Zagreb, Zagreb, Croatia
Martina Lović Benčić orcid id orcid.org/0000-0001-8446-6120 ; University Hospital Centre Zagreb, Zagreb, Croatia

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Abstract

Keywords

MTHFR; homocysteine; atrial fibrillation

Hrčak ID:

287029

URI

https://hrcak.srce.hr/287029

Publication date:

8.12.2022.

Visits: 537 *

Copyright: 2022, Croatian Cardiac Society

Date received: 26 October 2022

Date accepted: 10 November 2022

Publication date (print and electronic): November 2022

Volume: 17

Issue: 9-10

Page: 178

Publisher ID: CC 2022 17_9-10_178

DOI: 10.15836/ccar2022.178

Article Information (continued)

Categories:

Subject: Extended Abstract

Categories:

Subject: Arrhythmology and electrostimulation

KEYWORDS: :

KEYWORDS:

Keyword: MTHFR

Keyword: homocysteine

Keyword: atrial fibrillation

Association of gene polymorphism MTHFR C677T and MTHFR A1298C with atrial fibrillation

[https://orcid.org/0000-0003-3687-1310] Rea Levicki[1][*]

[https://orcid.org/0000-0001-5883-7979] Tamara Božina[2]

[https://orcid.org/0000-0001-6016-1699] Nada Božina[3]

[https://orcid.org/0000-0002-4751-0513] Maja Sirovica[2]

[https://orcid.org/0000-0003-0398-4618] Dubravka Memić[3]

[https://orcid.org/0000-0002-6325-7394] Martina Matovinović[3]

[https://orcid.org/0000-0001-8446-6120] Martina Lović Benčić[3]

 

[1] Požega General Hospital, Požega, Croatia

[2] University of Zagreb School of Medicine, Zagreb, Croatia

[3] University Hospital Centre Zagreb, Zagreb, Croatia

Author notes:

Correspondence to: [*] ADDRESS FOR CORRESPONDENCE: Rea Levicki, Opća županijska bolnica Požega, Osječka ul. 107, HR-34000, Požega, Croatia. / Phone: +386-98-5503-09 / E-mail: rlevicki@gmail.com

Introduction: MTHFR C677T and MTHFR A1298C polymorphisms are associated with hyperhomocysteinemia that results in prothrombogenic and atherogenic effect and could influence atrial fibrillation (AF) onset. (1,2) The goal of our study is to investigate relationship between MTHFR gene polymorphisms and AF.

Patients and Methods: We included 55 patients (31M, 23W) with AF. To all patients MTHFR C677T and MTHFR A1298C polymorphisms were determined, routine laboratory tests were done, transthoracic echocardiography was performed, body mass index was determined.

Results: In analysis of MTHFR C677T polymorphisms (Figure 1), there were 20 patients (36,4%) with healthy genotype (without present mutation) CC (cytosine–cytosine), 29 patients (52,7%) heterozygous CT (cytosine-thymine), and 6 patients (10,9%) with homozygous mutation TT (thymine-thymine). In analysis of MTHFR A1298C (Figure 2) there were 24 patients (43,6%) with healthy genotype AA (adenine-adenine), 23 patients (41,8%) heterozygous AC (adenine-cytosine), and 8 patients (14,5%) with homozygous mutation CC. Average weight of patients was 91.1±15.47kg, height 174.8±9.15 cm, and determined body mass index 29.54±3.68kg/m2. There were no differences in left atrium diameter in different genotype groups of patients.

FIGURE 1 MTHFR C677T polymorphisms distribution. CC = cytosine–cytosine, CT = cytosine-thymine, TT = thymine-thymine
CC202217_9-10_178-f1
FIGURE 2 MTHFR A1298C polymorphisms distibution. AA = adenine-adenine, AC = adenine-cytosine, CC = cytosine-cytosine
CC202217_9-10_178-f2

Conclusion: While incidence of MTHFR C677T homozygous mutation TT was similar in our group of patients with AF as in general population in our geographic region, the incidence of MTHFR C677T heterozygous mutation (52.7%) was significantly higher than the incidence of general population; approximately 20-40% of Caucasian. (3) MTHFR A1298C homozygous mutation CC incidence in our group of patients with AF (14.5%) was higher than in European population (7-12%). Pathological MTHFR C677T and MTHFR A1298C polymorphisms distribution in our group of patients with AF, that includes high incidence of heterozygous mutation and higher incidence of homozygous mutation than in general population, could indicate association of pathological MTHFR polymorphisms with AF onset.

LITERATURE

1 

Levin BL, Varga E. MTHFR: Addressing Genetic Counseling Dilemmas Using Evidence-Based Literature. J Genet Couns. 2016 October;25(5):901–11. https://doi.org/10.1007/s10897-016-9956-7 PubMed: http://www.ncbi.nlm.nih.gov/pubmed/27130656

2 

Botto LD, Yang Q. 5,10-Methylenetetrahydrofolate reductase gene variants and congenital anomalies: a HuGE review. Am J Epidemiol. 2000 May 1;151(9):862–77. https://doi.org/10.1093/oxfordjournals.aje.a010290 PubMed: http://www.ncbi.nlm.nih.gov/pubmed/10791559

3 

Wilcken B, Bamforth F, Li Z, Zhu H, Ritvanen A, Renlund M, et al. Geographical and ethnic variation of the 677C>T allele of 5,10 methylenetetrahydrofolate reductase (MTHFR): findings from over 7000 newborns from 16 areas world wide. J Med Genet. 2003 August;40(8):619–25. https://doi.org/10.1136/jmg.40.8.619 PubMed: http://www.ncbi.nlm.nih.gov/pubmed/12920077

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