蛋白C基因-1654C/T和-1641A/G多态性与严重脓毒症易感性及预后的关系

[Association between -1654C/T and -1641A/G gene polymorphism of protein C susceptibility and prognosis in severe sepsis].

作者信息

Wang Hong-xia, He Xin-biao, Song Shi-duo

机构信息

Department of Emergency Medicine, the Second Hospital of Tianjin Medical University, Tianjin 300211, China. Corresponding author: Song Shi-duo, Institute of Infectious Disease, the Second Hospital of Tianjin Medical University, Tianjin 300211, China, Email:

出版信息

Zhonghua Wei Zhong Bing Ji Jiu Yi Xue. 2013 Aug;25(8):463-6. doi: 10.3760/cma.j.issn.2095-4352.2013.08.004.

DOI:10.3760/cma.j.issn.2095-4352.2013.08.004

PMID:24021040

Abstract

OBJECTIVE

To approach the allele frequency and genotypic distribution of protein C (PC) gene polymorphism on the susceptivity and prognosis in severe sepsis patients.

METHODS

Eighty patients with severe sepsis were enrolled. They were divided into survival group (n=47) and non-survival group (n=33) according to 28-day prognosis. Seventy-two healthy volunteers were enrolled as controls. Allele-specific polymerase chain reaction (AS-PCR) was used to analyze -1654C/T and -1641A/G site genotypes polymorphism of PC gene, fragments containing alleles was analyzed by using DNA sequencing.

RESULTS

All the samples of the PC gene in the -1654C/T site had three kinds of genotypes: in 80 cases of severe sepsis group, there were 16 homozygous CC type, 44 heterozygous CT type, 20 homozygous TT type. In 72 cases of healthy control group, there were 17 CC type, 34 CT type, 21 TT type. The -1654C/T allele frequency and genotypic distribution in the patients with severe sepsis was not significantly different from those in the healthy control group, and no statistically significant difference was observed between the survival group and the non-survival group (all P>0.05). All the samples of the PC gene in the -1641A/G site had three kinds of genotypes: in 80 cases of severe sepsis group, there were 60 homozygous AA type, 12 heterozygous AG type, 8 homozygous GG type. In 72 cases of healthy control group, there were 57 AA type, 10 AG type, 5 GG type. No statistically significant difference was observed between severe sepsis group and healthy control group, the survival group and the non-survival group (all P>0.05) in -1641A/G allele frequency and genotypic distribution (all P>0.05). Three kinds of haploid, including -1654T/-1641A, -1654C/-1641A, and -1654C/-1641G were found except -1654T/-1641G. The frequency of haploid -1654C/-1641A was significant higher in non-survival group than that in the survival group [42.42% (14/33) vs. 21.28% (10/47), P=0.038].

CONCLUSIONS

The correlation between PC haploid -1654C/-1641A gene polymorphisms and prognosis of severe sepsis was found.

摘要

目的

探讨蛋白C（PC）基因多态性的等位基因频率和基因型分布与严重脓毒症患者易感性及预后的关系。

方法

选取80例严重脓毒症患者，根据28天预后分为存活组（n = 47）和非存活组（n = 33）。选取72例健康志愿者作为对照组。采用等位基因特异性聚合酶链反应（AS-PCR）分析PC基因-1654C/T和-1641A/G位点的基因型多态性，通过DNA测序分析含等位基因的片段。

结果

PC基因-1654C/T位点的所有样本均有三种基因型：80例严重脓毒症组中，纯合CC型16例，杂合CT型44例，纯合TT型20例。72例健康对照组中，CC型17例，CT型34例，TT型21例。严重脓毒症患者-1654C/T等位基因频率和基因型分布与健康对照组无显著差异，存活组与非存活组之间也无统计学差异（均P>0.05）。PC基因-1641A/G位点的所有样本均有三种基因型：80例严重脓毒症组中，纯合AA型60例，杂合AG型12例，纯合GG型8例。72例健康对照组中，AA型57例，AG型10例，GG型5例。严重脓毒症组与健康对照组、存活组与非存活组之间-1641A/G等位基因频率和基因型分布均无统计学差异（均P>0.05）。除-1654T/-1641G外，发现了三种单倍型，包括-1654T/-1641A、-1654C/-1641A和-1654C/-164bG。非存活组单倍型-1654C/-1641A的频率显著高于存活组[42.42%（14/33）对21.28%（10/47），P = 0.038]。