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

Scientific paper - Original scientific paper

• Author: Andrea Čeri
• Author: Jasna Leniček Krleža
• Author: Désirée Coen Herak
• Author: Marija Miloš
• Author: Marina Pavić
• Author: Nina Barišić
• Author: Vlasta Đuranović
• Author: Renata Zadro
• Author's institution: University of Zagreb; School of Medicine; (Department of Pediatrics)
• Scientific / art field, discipline and subdiscipline: BIOMEDICINE AND HEALTHCARE; Clinical Medical Sciences; Pediatrics

Abstract (english)

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 (english): Adolescent; Alleles; Antigens, Human Platelet / genetics; Brain Ischemia / diagnosis; Brain Ischemia / genetics; Case-Control Studies; Child; Child, Preschool; Factor V / genetics; Female; Genotype; Haplotypes; Heterozygote; Humans; Infant; Infant, Newborn; Male; Odds Ratio; P-Selectin / genetics; Polymorphism, Single Nucleotide; Real-Time Polymerase Chain Reaction; Stroke / diagnosis; Stroke / genetics
• Language: english
• Publication type: Scientific paper - Original scientific paper
• Publication status: Published
• Peer review: Peer review
• Publication version: Published version
• Journal title: Croatian Medical Journal
• Numbering: vol. 61, no. 1, pp. 18-27
• p-ISSN: 0353-9504
• e-ISSN: 1332-8166
• DOI: https://doi.org/10.3325/cmj.2020.61.18
• URN:NBN: urn:nbn:hr:105:184111
• Publication: 2020-02-29
• Document URL: http://www.cmj.hr/2020/61/1/32118374.htm
• Type of resource: Text
• Access conditions: Open access
• Created on: 2020-11-19 13:13:11