Naslov
Hereditary Hemochromatosis Gene Mutations in Patients with Myocardial Infarction.

Autori
Škrlec, Ivana ; Steiner, Robert ; Wagner, Jasenka

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni

Izvornik
13th Croatian Biological Congress with International Participation / Kružić, Petar ; Caput Mihalić, Katarina ; Gottstein, Sanja ; Pavoković, Dubravko ; Kučinić, Mladen - Zagreb : Hrvatsko biološko društvo, 2018, 178-179

Skup
13. Hrvatski biološki kongres

Mjesto i datum
Poreč, Hrvatska, 19.09.2018. - 23.09.2018

Vrsta sudjelovanja
Predavanje

Vrsta recenzije
Recenziran

Ključne riječi
HFE ; hemochromatosis ; myocardial infarction ; real-time PCR

Sažetak
Hereditary hemochromatosis is a disorder of iron accumulation in tissues, which is related to coronary heart diseases. Free radicals and reactive oxygen species, created because of iron deposition, promote oxidation of LDL cholesterol and could lead to the development of atherosclerosis. Studies have shown that HFE gene mutation carriers might be at higher risk of developing cardiovascular diseases compared with non-carriers. This study aimed to determine the frequency of HFE gene mutations in hereditary hemochromatosis in patients with myocardial infarction compared to a healthy group in eastern Slavonia. A retrospective case-control study was carried out on a population of 400 participants. In the first group were 200 patients (114 males and 86 females) with myocardial infarction. The second group consisted of 200 controls (103 males and 97 females) without a history of cardiovascular diseases. All patients were genotyped for the three most common mutations of the hereditary hemochromatosis in the HFE gene: Cys282Tyr, His63Asp, and Ser65Cys, by real-time PCR. The frequency of carriers of these mutations between patients and controls was not significant (Cys282Tyr: 4.5 vs. 8.1% ; His63Asp: 19 vs. 24.5% ; Ser65Cys: 3.5 versus 4%), as well as frequency and distribution of possible HFE gene haplotypes in two groups. In this study was not found an association of the HFE gene mutation for hereditary hemochromatosis with myocardial infarction in the population of Eastern Slavonia.

Izvorni jezik
Engleski

Znanstvena područja
Biologija, Temeljne medicinske znanosti, Kliničke medicinske znanosti

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