Naslov
Polymorphisms in Coagulation Factor Genes and Enzymes of Homocysteine Metabolism in Croatian Children with Arterial Ischemic Stroke

Autori
Coen Herak, Desiree ; Leniček Krleža, Jasna ; Radić Antolic, Margareta ; Horvat, Ivana ; Đuranović, Vlasta ; Zrinski-Topić, Renata ; Zadro, Renata

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

Izvornik
Abstracts of the 23rd Biennial International Congress on Thrombosis (MLTD Congress) ; u: Thrombosis Research 133 (2014) (S3) ; Platelets and Thrombosis in Children, C0326 / - , 2014, S21-S21

Skup
Biennial International Congress on Thrombosis (23 ; 2014)

Mjesto i datum
Valencia, Španjolska, 14.05.2014. - 17.05.2014

Vrsta sudjelovanja
Poster

Vrsta recenzije
Nije recenziran

Ključne riječi
stroke; child; risk factors; coagulation factors; homocysteine

Sažetak
Despite extensive investigations and identification of a wide range of inherited and acquired risk factors for childhood stroke in recent years, genetic risk factors for this disease are still incompletely characterized. Taking into consideration that the frequency of genetic factors may vary among different populations, the aim of this study was to investigate the possible role of individual inherited prothrombotic and intermediate risk factors in Croatian children with a confirmed diagnosis of arterial ischemic stroke (AIS) and to check the possible association of investigated risk factors with the disease. A genotype analysis of 14 polymorphisms in 12 candidate genes encoding proteins of the coagulation and fibrinolysis systems (FV Leiden, FV HR2, FII G20210A, b-FBG −455G>A, FXIII-A Val34Leu, PAI-1 4G/5G), human platelet alloantigens (HPA-1, -2, -3 and -5), homocysteine metabolism (MTHFR C677T, MTHFR A1298C) and intermediate risk factors (ACE I/D and apoE e2–4) was performed in 73 children (48 boys and 25 girls) with AIS aged ≤18 years and compared with 100 age- and sex-matched control subjects from the same geographical region. Investigated polymorphisms were also analyzed in AIS subgroups defined according to the time of stroke onset into perinatal (n = 35, 20 boys and 15 girls) and childhood AIS (n = 38, 28 boys and 10 girls). FV Leiden was found to be significantly associated with approximately 5-fold increased risk for AIS (OR = 4.72 ; 95% CI 1.22–18.27), and 8-fold increased risk for perinatal AIS (OR = 8.29 ; 95% CI 1.95–35.24). The presence of at least one HPA-3b allele was associated with approximately 2-fold lower risk for the development of AIS (OR = 0.51 ; 95% CI 0.26–0.98) and perinatal AIS (OR = 0.40 ; 95% CI 0.18–0.92). Increased risk for childhood AIS was identified in carriers of at least one FXIII-A Leu34 allele (OR = 2.21 ; 95% CI 1.03–4.73). Moreover, combined heterozygosity for FV Leiden and FV HR2 was found in 5/73 children with AIS (P = 0.012), in both AIS subgroups (perinatal AIS 2/35, childhood AIS 3/35) whereas this combination was not found in control subjects. This case-control study confirmed the association between FV Leiden and AIS that has also been observed in numerous studies so far, but it also showed that other previously not reported polymorhisms (FXIII-A Val34Leu, HPA-3) as well as the combination of FV Leiden and FV HR2 polymorphisms, can be related to AIS subgroups in Croatian population.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

Napomena
Oral communications - oral poster presentation ; http://dx.doi.org/10.1016/S0049-3848(14)50088-6 ; doi:10.1016/S0049-3848(14)50088-6

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