Case-control study on the association between the GATA2 gene and premature myocardial infarction in the Iranian population

Fall-Kontroll-Studie zur Assoziation zwischen GATA2-Gen und frühzeitigem Myokardinfarkt in der iranischen Bevölkerung

Abstract

In recent decades, due to the high prevalence of coronary artery disease (CAD) and myocardial infarction (MI), numerous studies have attempted to elucidate genetic contributing factors in these complex disorders. A very interesting gene in this regard is GATA-binding protein 2 (GATA2), an important regulator of various gene expressions in vascular endothelial cells. Accordingly, the association of different GATA2 polymorphisms with CAD and MI has already been evaluated. Rs2713604 is a genetic marker whose association with CAD has not been reproduced in previous studies. Considering the importance of replicating the initial association, the present case-control study aimed to examine the association of this intronic variant with premature MI in a sample of the Iranian population. In this study, 193 participants from Jahrom Hospital (Jahrom, Iran) were consecutively recruited during a 1.5-year period, and, following blood sampling, genomic DNA was extracted. We then proceeded to genotype rs2713604 using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method and statistically analyzed the data. After adjustment for hyperlipidemia, hypertension, and type 2 diabetes mellitus, the results of the multivariate regression analysis showed no significant association between rs2713604 and premature MI. Interestingly, the risk allele (A-allele) of rs2713604 displayed a slightly higher frequency among controls compared to cases.

Zusammenfassung

In den letzten Jahrzehnten haben aufgrund der hohen Prävalenz von koronarer Herzkrankheit (KHK) und Myokardinfarkten (MI) zahlreiche Studien versucht, die genetischen Einflussfaktoren auf diese komplexen Krankheitsbilder zu erklären. In dieser Hinsicht stellt das GATA-bindende Protein 2 (GATA2) als ein wichtiger Regulator verschiedener Genexpressionen bei vaskulären endothelialen Zellen ein sehr interessantes Gen dar. Folglich wurde die Assoziation von verschiedenen GATA2-Polymorphismen mit CAD und MI schon evaluiert. Der Zusammenhang des genetischen Markers rs2713604 und CAD konnte jedoch in früheren Studien nicht reproduziert werden. In Anbetracht dessen, wie wichtig die Replikation dieser initial festgestellten Assoziation ist, war es das Ziel der aktuellen Fall-Kontroll-Studie, den Zusammenhang dieser intronischen Variante mit frühzeitigem MI anhand einer Stichprobe der iranischen Bevölkerung zu untersuchen. In dieser Studie wurden 193 Teilnehmer des Jahrom Hospital (Jahrom, Iran) während eines Zeitraums von 1,5 Jahren konsekutiv rekrutiert. Nach einer Blutprobe wurde die genomische DNA extrahiert. Anschließend wurde rs2713604 mittels Polymerase-Kettenreaktion-Restriktionsfragmentlängenpolymorphismus (PCR-RFLP) genotypisiert, und die Daten wurden statistisch analysiert. Nach der Anpassung von Hyperlipidämie, Hypertension und Diabetes mellitus Typ 2 zeigte das Ergebnis der multivariaten Regressionsanalyse keine signifikante Assoziation zwischen rs2713604 und einem frühzeitigem MI. Interessanterweise wies das Risiko-Allel (A-Allel) von rs2713604 eine geringfügig höhere Häufigkeit in der Kontrollgruppe im Vergleich zu der Fallgruppe auf.

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Acknowledgements

This research was supported by Jahrom University of Medical Sciences. We are also very grateful to our colleagues who work in the molecular laboratory.

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Correspondence to Saiedeh Erfanian or Simin Jafaripour.

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P. Izadpanah, E. Khabbzi, S. Erfanian, S. Jafaripour, and M. Shojaie declare that they have no competing interests.

All procedures performed in studies involving human participants or on human tissue were in accordance with the ethical standards of the institutional and/or national research committee and with the 1975 Helsinki declaration and its later amendments or comparable ethical standards. Informed consent was obtained from all individual participants included in the study.

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Izadpanah, P., Khabbzi, E., Erfanian, S. et al. Case-control study on the association between the GATA2 gene and premature myocardial infarction in the Iranian population. Herz 46, 71–75 (2021). https://doi.org/10.1007/s00059-019-04841-x

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Keywords

  • Association
  • GATA2 transcription factor
  • Coronary artery disease
  • Rs2713604
  • Myocardial infarction

Schlüsselwörter

  • Assoziation
  • GATA2-Transcriptionsfaktor
  • Koronare Herzkrankheit
  • rs2713604
  • Myokardinfarkt