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.
journal_name
Semin Thromb Hemostjournal_title
Seminars in thrombosis and hemostasisauthors
Sokol J,Biringer K,Skerenova M,Stasko J,Kubisz P,Danko Jdoi
10.1055/s-0034-1395351subject
Has Abstractpub_date
2015-04-01 00:00:00pages
330-5issue
3eissn
0094-6176issn
1098-9064journal_volume
41pub_type
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pub_type: 杂志文章,评审
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journal_title:Seminars in thrombosis and hemostasis
pub_type: 临床试验,杂志文章
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abstract::In order to determine whether maternal smoking before or during pregnancy, or both, is associated with a reduced risk for preeclampsia in Japanese subjects, we conducted a case-control study that took other risk factors for preeclampsia into consideration. Seventy-one preeclampsia patients were matched with 142 contro...
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