Naslov
Factor XIII Val34Leu Polymorphism in Croatian Population

Autori
Bronić, Ana ; Ferenčak, Goran ; Zadro, Renata ; Stavljenić Rukavina, Ana

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

Izvornik
XX Congress of the International Society on Thrombosis and Haemostasis ; u: Journal of Thrombosis and Haemostasis ; P2314 / Mannucci, Pier M. - Malden (MA) : Wiley-Blackwell, 2005

Skup
Congress of the International Society on Thrombosis and Haemostasis (20 ; 2005)

Mjesto i datum
Sydney, Australija, 06.08.2005. - 12.08.2005

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
FXIII Val34Leu; coronary artery disease

Sažetak
Coagulation factor XIII is a plasma transglutaminase and circulates in blood as a heterotetramer consisting of two catalytic A (FXIII-A) and two noncatalytic B (FXIII-B) subunits (A2B2). A few polymorhic sites have been identified in the FXIII A-gene, one of them being a common point mutation Val34LeuFXIII leading to an aminoacid change of valin to leucine near the cleavage site of the FXIII activation peptide. This mutation seems to be associated with a protective effect against occlusive arterial diseases. The aim of our study was to explore frequency of Val34LeuFXIII polymorphism and to establish association with coronary artery disease (CAD) among 200 croatian individuals, 120 with coronary artery disease (CAD+) and 80 healthy controls (CAD-). Genomic DNA was isolated from white blood cells by method described by Miller et al. Genotyping was performed by real-time PCR on the Light Cycler using melting curve analysis with primers: forward 5'-AACTTTCCAGGACCGGCTTT-3' and reverse 5'-ACCCAGAGTGGTGGGGAA-3'. The genotype was classified as wild type (VV), heterozygous (VL), or homozygous mutant (LL).In all of our patients genotype distribution of Val34LeuFXIII was as follows: VV=57.0%, VL=37.5%, LL=5.5%. The frequency of mutated allele L34 was 24.3%. There was no significant differences in frequency og VL or LL genotype between CAD+ patients and CAD-patients (for VL genotype 39.2% vs 35.0%, P=0.65 and LL genotype 5.0% vs 6.3%, P=0.94). No significant differences were detected in the L34 allele prevalence between patients and controls (24.6% vs 23.8%, P=0.95). Frequency of mutated allele in our population is 24.3% as it is in most Caucasians. The present data do not point to an association between the Val34LeuFXIII polymorphism and the risk of coronary artery disease in sampled Croatian population.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti

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