Abstract | BACKGROUND: METHODS: Helsinki Committee approval was received for this study. Blood samples were taken from 80 patients with non-neuronopathic disease, some on ERT, and from 44 healthy Jewish controls. PAR1 polymorphisms IVS[-14(A/T)], and [-506(I/D)] and [-1426(C/T)] were analyzed. Patient data were collected from the files. Associations between PAR1 and categorical variables were analyzed by chi-square and Fisher's exact tests; assessment of associations with quantitative variables used ANOVA and Scheffe post-hoc for multiple pair-wise comparisons. Non-parametric Kruskal-Wallis ANOVA was used when one category was small. All tests were 2-tailed; p values </= 0.05 were considered statistically significant. RESULTS: There was a statistically significant difference (p=0.015) between patients and controls for [-1426(C/T)]TT genotype. There was no significant correlation for [-1426(C/T)] with disease severity, need for ERT, splenectomy, or presence of bone disease; rather, there was a significant correlation between lower platelet counts (p=0.0003) and the [-1426(C/T)]TT genotype and a trend for correlation with inflammation markers (p=0.079). There was a statistically significant correlation for [-506(I/D)]II genotype with femoral neck bone density (p=0.034). All patients carried the wild type for IVS[-14(A/T)]. CONCLUSION:
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Authors | Gheona Altarescu, Orit Seror-Bukris, Ari Zimran, Deborah Elstein |
Journal | Blood cells, molecules & diseases
(Blood Cells Mol Dis)
2010 Mar-Apr
Vol. 44
Issue 2
Pg. 79-81
ISSN: 1096-0961 [Electronic] United States |
PMID | 19969492
(Publication Type: Journal Article)
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Copyright | Copyright (c) 2009 Elsevier Inc. All rights reserved. |
Chemical References |
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Topics |
- Female
- Gaucher Disease
(complications, genetics)
- Humans
- Male
- Platelet Count
- Polymorphism, Genetic
- Receptor, PAR-1
(genetics)
- Thrombocytopenia
(complications, genetics)
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