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MTHFR Polymorphism in Patients with Cerebrovascular Insult and Deep Venous Thrombosis


Topić, Elizabeta; Čubrilo-Turek, Mirjana; Begonja, Antonija; Šimundić, Ana Marija; Demarin, Vida; Stančić, Vladimir; Žuntar, Irena
MTHFR Polymorphism in Patients with Cerebrovascular Insult and Deep Venous Thrombosis // 73rd European Atherosclerosis Society Congress "Atherosclerosis : risk factors, diagnosis, and treatment" : proceedings / Kostner, Gert ; Kostner, Karam M. ; Kostner, Bernd (ur.).
Bologna: Monduzzi editore, International Proceedings Division, 2002. str. 481-487 (predavanje, međunarodna recenzija, cjeloviti rad (in extenso), znanstveni)


Naslov
MTHFR Polymorphism in Patients with Cerebrovascular Insult and Deep Venous Thrombosis

Autori
Topić, Elizabeta ; Čubrilo-Turek, Mirjana ; Begonja, Antonija ; Šimundić, Ana Marija ; Demarin, Vida ; Stančić, Vladimir ; Žuntar, Irena

Vrsta, podvrsta i kategorija rada
Radovi u zbornicima skupova, cjeloviti rad (in extenso), znanstveni

Izvornik
73rd European Atherosclerosis Society Congress "Atherosclerosis : risk factors, diagnosis, and treatment" : proceedings / Kostner, Gert ; Kostner, Karam M. ; Kostner, Bernd - Bologna : Monduzzi editore, International Proceedings Division, 2002, 481-487

ISBN
9788832327076

Skup
Congress of the European Atherosclerosis Society (73 ; 2001)

Mjesto i datum
Salzburg, Austrija, 07.-10.07.2002.

Vrsta sudjelovanja
Predavanje

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
Vascular diseases ; MTHFR polymorphism

Sažetak
Hyperhomocysteinemia is an independent risk factor for vascular disease, in which besides nutritional, genetic factors are also involved. The polymorphisms of methylenetetrahyfrofolate reductase (MTHFR) gene encoding for the enzyme, that controls homocysteine metabolism, predisposed to hyperchomocysteinemia, suggesting that MTHFR TT genotype is associated with an increased risk of vascular disease. The aim of the study was to evaluate the MTHFR polymorphism in 56 patients with stroke (ST) and 47 patients with deep venous thrombosis (DVT), and to compare it with control group (n=111). Polymorphic MTHFR alleles were detected by DNA isolated from EDTA blood by PCR-RFLP and RE Hinf I (G-AnTC). Quality controls containing known genotypes were included in each run. The results showed higher MTHFR T allele frequencies in either patient group (34.0% and 29.8% in ST and DVT patients, respectively) then in controls (24.8%), however, the difference was not significant. The frequency of MTHFR TT genotype distribution showed a significant difference between the control and ST group (p=0.004), and DVT group (p=0.001). The frequency of homozygous T allele genotype in ST was 12.5%, in DVT 12.8%, and in control group 0.9%. The odds ratio for ST and DVT patients was 17.571% (CI, 3.553-86.897) and 16.098 (3.095-83.727), respectively, revealing a significant risk for persons with homozygous TT genotype. These preliminary results suggest the potential association between the MTHFR gene polymorphism and development of peripheral vascular disease. In the future, this ongoing study is anticipated to include a larger group of subjects, hopefully leading to more decisive conclusions.

Izvorni jezik
Engleski

Znanstvena područja
Biologija, Temeljne medicinske znanosti, Etnologija i antropologija



POVEZANOST RADA


Ustanove
Medicinski fakultet, Zagreb,
KBC "Sestre Milosrdnice",
Institut za antropologiju