Original scientific paper
https://doi.org/10.3325/cmj.2020.61.1 8
Role of platelet gene polymorphisms in ischemic pediatric stroke subtypes: a case-control study
Andrea Čeri
orcid.org/0000-0003-3709-6328
; Department of Medical Biochemistry and Hematology, University of Zagreb Faculty of Pharmacy and Biochemistry, Zagreb, Croatia
Jasna Leniček Krleža
orcid.org/0000-0002-2554-4034
; Department of Laboratory Diagnostics, Children’s Hospital Zagreb, Zagreb, Croatia
Désirée Coen Herak
orcid.org/0000-0001-8327-9913
; Department of Medical Biochemistry and Hematology, University of Zagreb Faculty of Pharmacy and Biochemistry, Zagreb, Croatia
Marija Miloš
orcid.org/0000-0002-0248-4278
; Department of Laboratory Diagnostics, University Hospital Centre Zagreb, Zagreb, Croatia
Marina Pavić
orcid.org/0000-0003-0183-4712
; Department of Laboratory Diagnostics in Traumatology and Orthopedics, Clinical Institute of Chemistry, University Hospital Centre Sestre Milosrdnice, Zagreb, Croatia
Nina Barišić
; Division of Neuropediatrics, Department of Pediatrics, University Hospital Centre Zagreb, Zagreb, Croatia
Vlasta Đuranović
; Department of Neuropediatrics, Children’s Hospital Zagreb, Zagreb, Croatia
Renata Zadro
orcid.org/0000-0003-1590-0514
; Department of Medical Biochemistry and Hematology, University of Zagreb Faculty of Pharmacy and Biochemistry, Zagreb, Croatia
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 pediat
-
ric stroke (IPS) subtypes: cerebral sinovenous thrombosis
(CSVT), perinatal (PAIS), and childhood (CAIS) arterial isch
-
emic stroke.
Methods This case-control study enrolled 150 children
with confirmed IPS and 150 age- and sex-matched con
-
trols. FV R506Q and HPA-1 were genotyped with CVD Stri
-
pAssay®, HPA-2 and HPA-3 with real-time polymerase chain
reaction, SELP S290N, V599L, and T715P with high resolu
-
tion melting analysis, and SELP N562D with sequence-spe
-
cific 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-signifi
-
cantly 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 carri
-
ers (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 haplo
-
types, are involved in IPS subtypes pathogenesis. A possi
-
ble risk-inducing synergistic effect of SELP haplotypes with
FV R506Q is restricted to PAIS only
Keywords
Hrčak ID:
278008
URI
Publication date:
24.12.2020.
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