Authors Mutation (polymorphisms) tested Population findings Results
Kubisz et al. [18] GPIIIa PIA A1/A2 9 patients with SPS (4M /5F; 2TI/ 6TII/ 1TIII); whites No clear relation between SPS and SNP
Kubisz et al. [19] Gas6 c.834 +7G > A 128 patients with SPS (42M/ 86F; 35TI/ 91TII/ 2TIII); 137 controls; withes No significant differences between SPS and control group; G allele more prevalent in SPS Type II
Ruiz-Argüelles et al. [21] GPIIIa PIA A1/A2 95 patients with SPS (43M/ 52F; 61TI/ 6TII/ 28TIII); 127 controls; Mexican mestizo No significant differences between SPS and control group
Kubisz et al. [22] 6 GP6 SNPs (rs1654410, rs1671153, rs1654419, rs11669150, rs12610286 and rs1654431) 71 patients with SPS (stroke; 24M/ 47F; 17TI/ 52TII/ 2TIII) 77 controls; whites No significant differences between SPS and control group; SNP rs12610286, haplotype TTGTGA significant more frequent in SPS Type I compared with controls
Sokol et al. [23] 27 patients with SPS (fetal loss; 27F; 7TI/ 20TII); 42 controls; whites 3 SNPs significantly more frequent (rs1671153, rs1654419, rs1613662) in SPS group; significant higher occurrence of 2 haplotypes (CTGAG, CGATAG)
Kotuličová et al. [24] 77 patients with SPS (VTE; 22TI/ 54TII/ ); 77 controls; whites 2 SNPs (rs1613662, rs1654419) significant more frequent in SPS group; 2 SNPs (rs1671153, rs1654419) significantly more frequent in Type II compared with controls
Kubisz et al. (Peter Kubisz, MD, DSc, Unpublished data March 2013) 4 Gas6 SNPs (rs7400002, rs1803628, rs8191974, rs9550270), 2 PEAR1 SNPs (rs12041331, rs12566888), 2 MRVI1 SNPs (rs7940646, rs187445) 23 patients with SPS (fetal loss 23, W; 23, TIII); 42 controls; whites 1 GAS6 SNP (rs7400002) and 1 PEAR1 SNP (rs12566888) significantly more frequent in SPS group
GP: Glycoprotein; M: Men; SNP: Single Nucleotide Polymorphism; SPS: Sticky Platelet Syndrome; T: Type; VTE: Venous Thromboembolism; W: Women; TI: Hyperaggregability to ADP and EPI; TII: Hyperaggregability to EPI alone; TIII: Hyperaggregability to ADP alone
Table 2: Summary of limited genetic studies related to the prevalence of the defects in SPS patients