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Croatian Medical Journal, Vol. 61 No. 1, 2020.

Original scientific paper

https://doi.org/10.3325/cmj.2020.61.18

Role of platelet gene polymorphisms in ischemic pediatric stroke subtypes: a case-control study

Andrea Čeri orcid id orcid.org/0000-0003-3709-6328 ; Department of Medical Biochemistry and HematologyUniversity of Zagreb Faculty ofPharmacy and Biochemistry, Zagreb, Croatia
Jasna Leniček Krleža orcid id orcid.org/0000-0002-2554-4034 ; Department of Laboratory Diagnostics, Children’s Hospital Zagreb, Zagreb, Croatia
Désirée Coen Herak orcid id orcid.org/0000-0001-8327-9913 ; Department of Laboratory Diagnostics, University HospitalCentre Zagreb, Zagreb, Croatia
Marija Miloš orcid id orcid.org/0000-0002-0248-4278 ; Department of Laboratory Diagnostics, University HospitalCentre Zagreb, Zagreb, Croatia
Marina Pavić orcid id orcid.org/0000-0003-0183-4712 ; Department of Laboratory Diagnostics in Traumatology andOrthopedics, Clinical Institute ofChemistry, University HospitalCentre Sestre Milosrdnice, Zagreb Croatia
Nina Barišić ; Division of Neuropediatrics Department of PediatricsUniversity Hospital Centre Zagreb, Zagreb, Croatia
Vlasta Đuranović ; Department of Neuropediatrics Children’s Hospital Zagreb, Zagreb Croatia
Renata Zadro orcid id orcid.org/0000-0003-1590-0514 ; Department of Medical Biochemistry and HematologyUniversity of Zagreb Faculty ofPharmacy and Biochemistry, Zagreb, Croatia

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Abstract

Aim To assess the role of human platelet antigens (HPA), P-selectin gene (SELP) polymorphisms, and HPA and SELP haplotypes with factor V (FV) R506Q in ischemic pediatric stroke (IPS) subtypes: cerebral sinovenous thrombosis (CSVT), perinatal (PAIS), and childhood (CAIS) arterial ischemic stroke.
Methods This case-control study enrolled 150 children with confirmed IPS and 150 age- and sex-matched controls. FV R506Q and HPA-1 were genotyped with CVD StripAssay®, HPA-2 and HPA-3 with real-time polymerase chain reaction, SELP S290N, V599L, and T715P with high resolution melting analysis, and SELP N562D with sequence-specific polymerase chain reaction.Results HPA-1b allele (odds ratio [OR] 2.75, 95% confidence interval [CI] 1.02-7.42, P = 0.048) and HPA-1a2a3b (OR 5.46, 95% CI 1.51-19.76, P = 0.011), HPA-1b2a3a (OR 7.00, 95% CI 1.25-39.13, P = 0.028), and HPA-1b2b3a (OR 11.39, 95% CI 1.39-92.95, P = 0.024) haplotypes increased the risk for CSVT. HPA-3b allele was significantly associated with 2-fold lower risk for PAIS (OR 0.49, 95% CI 0.26-0.89, P = 0.020) and CAIS (OR 0.47, 95% CI 0.26-0.86, P = 0.014) and non-significantly associated with increased risk for CSVT (OR 6.43, 95% CI 0.83-50.00, P = 0.022). HPA-1a2b3a haplotype was significantly associated with CAIS (OR 6.76, 95% CI 2.13-21.44, P = 0.001). The inclusion of FV R506Q in SELP haplotype analysis increased the risk for PAIS 4-fold in QNDVT carriers (OR 8.14, 95% CI 0.93-71.33, P = 0.060) compared with NDVT haplotype (OR 2.45, 95% CI 0.98-6.18, P = 0.058), but the result was not significant.
Conclusion Individual HPAs, and particularly HPA haplotypes, are involved in IPS subtypes pathogenesis. A possible risk-inducing synergistic effect of SELP haplotypes with FV R506Q is restricted to PAIS only.

Keywords

Hrčak ID:

240152

URI

https://hrcak.srce.hr/240152

Publication date:

15.2.2020.

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