Association between rs5370 and rs9349379 polymorphisms and coronary artery disease in Polish population

Tomasz Iwanicki, Joanna Iwanicka, Alicja Jarosz, Anna Ochalska-Tyka, Jolanta Krauze, Sylwia Górczyńska-Kosiorz, Paweł Niemiec


Introduction: The 6p24 region modulates the risk of coronary artery disease (CAD), migraine headache, carotid artery dissection, fibromuscular dysplasia, and hypertension. It includes the PHACTR1 and EDN1 genes that are considered genetic loci for cardiovascular disease risk. The present study aimed to verify the hypothesis that polymorphisms of the 6p24 region (rs5370, rs9349379) shape the risk of CAD in the Polish population.

Materials and methods: The study included 490 Caucasian subjects divided into 2 groups. The 1st group consisted of 244 patients with angiographically confirmed premature CAD as CAD group and the 2nd group included 242 blood donors as controls. We performed serum lipid measurements and genetic analysis as well as statistical analysis containing biological interactions between genetic and environmental factors.

Results: The analysis showed an association between carrying the G allele of the rs9349379 polymorphism and a higher risk of myocardial infarction (MI) in <50-years-old CAD patients (OR: 2.16; 95% CI: 1.03–4.53; p = 0.040). Furthermore, carrying the T allele of rs5370 decreased the risk of hypertension in non-smokers (OR: 0.21; 95% CI: 0.05–0.82; p = 0.046). Moreover, our analysis showed that cigarette smokers carrying the T allele of the rs5370 polymorphism had more than a 9-times greater risk of MI (SI = 9.86, 95% CI: 2.17–35.12, p = 0.003) compared to allele GG homozygotes.

Conclusions: In conclusion, our results suggest that the genotypic variants of the rs9349379 PHACTR1 predispose to MI in the subgroup under 50-years-old CAD group participants, and the variants of rs5370 EDN1 modulate the risk of MI and hypertension depending on nicotinism.


EDN1; PHACTR1; single nucleotide polymorphism; coronary artery disease

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Copyright (c) 2022 Tomasz Iwanicki, Joanna Iwanicka, Alicja Jarosz, Anna Ochalska- Tyka, Jolanta Krauze, Sylwia Górczyńska- Kosiorz, Paweł Niemiec

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