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Semin Thromb Hemost 2015; 41(03): 330-335
DOI: 10.1055/s-0034-1395351
Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Different Models of Inheritance in Selected Genes in Patients with Sticky Platelet Syndrome and Fetal Loss

Juraj Sokol
1   Department of Haematology and Transfusiology, National Centre of Haemostasis and Thrombosis, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, Martin, Slovakia
,
Kamil Biringer
2   Department of Gynaecology and Obstetrics, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, Martin, Slovakia
,
Maria Skerenova
3   Department of Biochemistry, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, Martin, Slovakia
,
Jan Stasko
1   Department of Haematology and Transfusiology, National Centre of Haemostasis and Thrombosis, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, Martin, Slovakia
,
Peter Kubisz
1   Department of Haematology and Transfusiology, National Centre of Haemostasis and Thrombosis, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, Martin, Slovakia
,
Jan Danko
2   Department of Gynaecology and Obstetrics, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, Martin, Slovakia
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Publikationsverlauf

Publikationsdatum:
19. Februar 2015 (online)

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Abstract

Introduction The aim of this study was to evaluate the genetic variability of selected single nucleotide polymorphisms (SNPs) within GAS6 and PEAR1 genes and explore the association between selected SNPs and risk for fetal loss in women with sticky platelet syndrome (SPS).

Materials and Methods We examined 23 female patients with SPS and history of spontaneous abortion, and 42 healthy women who served as controls. The diagnosis of SPS was established by light transmission aggregometry according to methods and criteria developed by Mammen et al. We also assessed four SNPs within the GAS6 gene (rs7400002, rs1803628, rs8191974, rs9550270) and two SNPs within PEAR1 gene (rs12041331, rs12566888).

Results We identified two SNPs within PEAR1 gene (rs12041331, rs12566888) and one SNP within GAS6 gene (rs9550270) that have higher occurrence in SPS patients with history of abortion. An increased risk for abortion was observed in carriers of the rs7400002 within GAS6 gene. Conversely, we found that the T allele of PEAR1 c. -9–4663G > T polymorphism appears to be protective for fetal loss.

Conclusion Our results support the idea that genetic variability of GAS6 and PEAR1 genes may be associated with platelet hyperaggregability. The study also suggests a possible polygenic type of SPS heredity.

Keywords

fetal loss - GAS6 gene - PEAR1 gene - single nucleotide polymorphism - platelet hyperaggregability
 

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