engleski

Factor XIII Val34Leu Polymorphism in Croatian Population

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.

FXIII Val34Leu; coronary artery disease

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