C 蛋白基因多态性对脓毒血症患者血小板功能的影响

目的:探讨蛋白C基因突变及基因型频率分布和脓毒血症患者血小板功能及血清TXB2水平的相关性。方法:纳入112例脓毒血症患者,健康人群50例为对照组。采用PCR-RFLP法测定所有受试者蛋白C基因rs 17999808C/A位点和rs1799809位点基因型及突变率。入院24小时内测定脓毒血症患者血小板计数、最大聚集率及血清TXB2水平,并对其进行SOFA评分。结果:病例组和对照组rs17999808位点和rs1799809位点间基因型分布频率无统计学差异(P0.05)。rs 17999808基因型分布C/C占81.48%、C/A占12.96%、A/A占5.55%。rs1799809位点G/G占76.54%、G/C占15.43%、C/C占8.02%。rs17999808位点和rs1799809位点突变率分贝为12.03%、15.74%。病例死亡34例,死亡率30.35%。rs17999808位点突变纯合子患者(A/A)死亡率及SOFA评分明显增高,和野生纯合子及突变杂合子患者差异有统计学意义(P0.05)。rs17999808位点C/C野生纯合子患者血小板计数和TXB2浓度明显高于C/A和A/A患者,血小板聚集率低于后两者,差异有统计学意义(P0.05)。突变纯合子A/A患者较C/C、C/A患者两两相比,差异有统计学意义(P0.05)。rs17999809位点突变和TXB2浓度有相关性(P0.05)。结论:蛋白C基因rs17999808位点突变增加了脓毒血症患者死亡风险,这可能和其改变血小板功能有关。

Influence of C-protein Gene Polymorphismon Platelet Function in Patients with Sepsis

Objective:To investigate the gene mutation of protein C and the gene polymorphism frequency distribution and its relationship with platelet function and serumlevel of TXB2 in patients with sepsis.Methods:The 112 patients with sepsis were included as case group and 50 healthy people were taken as control group. The point of rs17999808 site and rs1799809 site genotype and the mutation rate of gene protein C were checked by PCR-RFLP method. Platelet count, maximum aggregation rate and serum TXB2 level were tested within 24 hours admitted to hospital, and SOFA was scared of each patient.Results:The genotype distribution frequency of rs17999808 and rs1799809 loci have no statistical difference between two groups (P>0.05). The distribution of C/C, C/A and A/A genotype of rs17999808 was 81.48% 12.96% and 5.55% respectively. The distribution G/G, C/G and C/C genotype of rs1799809 was 76.54%, 15.43%and 8.02%respectively. The mutation rate of rs17999808 and rs1799809 loci is 12.03%and 15.74%respectively. In this study, 34 patients was death, and the mortality was 30.35%. The patients with homozygous mutant (A/A) of rs 17999808 loci had significantly higher mortality and SOFA score, and had statistically significant difference as compared with those with wild homozygous and heterozygous mutations (P<0.05). The platelet count and TXB2 concentration were significantly higher in patients with C/C rs17999808 loci wild homozygous than in patients with that of C/A and A/A. The platelet aggregation rate was lower in the latter and the difference was statistically significant (P<0.05). There were also statistically significant difference in pair-wise comparison of patients with A/A, C/C and C/A homozygous mutations (P<0.05). The rs 17999809 locus mutation had correlation with the TXB2 concentration (p<0.05).Conclusion:The mutation of rs 17999808 loci of protein C gene increased mortality risk for patients with sepsis. And this may be related to the change of platelet function.