PON1基因-c.108C>T和c.192Q>R变异与子痫前期发病的相关性分析  

Association of the -c.108C>T and c. 192Q>R polymorphisms of the PON1 gene with preeclampsia among Chinese women

作　　者：张馨元 范平[2] 刘青青 刘兴会 白怀[2] 吴玉洁 李遂焰[1] Zhang Xinyuan;Fan Ping;Liu Qingqing;Liu Xinghui;Bai Huai;Wu Yujie;Li Suiyan(School of Life Science and Engineering,Southwest Jiaotong University,Chengdu,Sichuan 610031,China;Laboratory of Genetic Disease and Perinatal Medicine,West China Second University Hospital,Sichuan University,Chengdu,Sichuan 610041,China;Department of Obstetrics and Gynecology,West China Second Hospital,Sichuan University,Chengdu,Sichuan 610041,China)

机构地区：[1]西南交通大学生命科学与工程学院,成都610031 [2]四川大学华西第二医院遗传代谢性疾病及围生医学实验室,成都610041 [3]四川大学华西第二医院妇产科,成都610041

出　　处：《中华医学遗传学杂志》2024年第7期866-871,共6页Chinese Journal of Medical Genetics

基　　金：四川省重点研发项目(2019YFS0401)。

摘　　要：目的探讨对氧磷酶1(PON1)基因-c.108C>T与c.192Q>R多态性与中国妇女子痫前期(preeclampsia,PE)发病的相关性及其对代谢和氧化应激指标的影响。方法以2006~2021年在四川大学华西第二医院产科就诊的334例PE患者和1337例健康孕妇作为研究对象,用PCR-限制性片段长度多态性方法确定其PON1基因型及其对代谢和氧化应激指标的影响。结果PON1-c.108C>T和c.192Q>R变异的等位基因与基因型频率在两组之间差异并无统计学意义(P>0.05),但192Q-108T单倍型与增加的PE风险有关(P=0.007);-108TT基因型携带的患者比CT基因型携带的患者有更高的总抗氧化能力和动脉粥样硬化指数(P<0.05);CT基因型携带的患者比CC基因型携带的患者有更低的氧化应激指数(P=0.036);携带192RR基因型的患者比QQ基因型携带的患者有更高的血清丙二醛水平(P=0.019),比携带QR基因型的患者有更高的总抗氧化能力(P=0.015)。结论PON1192Q-108T单倍型与我国妇女PE发病风险有关联性,这两个基因变异可能与PE患者的脂代谢异常和氧化应激的发生有关。Objective To assess the association of-c.108C>T and c.192Q>R polymorphisms of paraoxonase 1(PON1)gene with preeclampsia(PE)and the influence of genotypes on the metabolic and oxidative stress indexes among Chinese women.Methods This case-control study has included 334 patients with PE and 1337 healthy pregnant women.The-c.108C>T and c.192Q>R genotypes were determined by PCR and restriction fragment length polymorphism method.Metabolic and oxidative stress parameters were also analyzed.Results No statistical difference in the genotypic and allelic frequencies for the-c.108C>T and c.192Q>R polymorphisms of the PON1 gene was found between the PE patients and the healthy controls(P>0.05).Nevertheless,the 192Q-108T haplotype of these polymorphisms was associated with an increased risk of PE(P=0.007).Total antioxidant capacity(TAC)and atherosderosis index were higher in patients with the-108TT genotype compared with those with a CT genotype(P<0.05);whilst total oxidant status was lower in patients with a CT genotype compared with those with a CC genotype(P=0.036).Malondialdehyde level was higher in patients with a 192RR genotype compared with those with a QQ genotype(P=0.019).TAC level was higher in patients with a RR genotype compared with those with a QR genotype(P=0.015).Conclusion The 192Q-108T haplotype of the PON1 gene is associated with the risk for PE.These polymorphisms may be associated with abnormal lipid metabolism and oxidative stress among Chinese PE patients.

关 键 词：子痫前期 对氧磷酶1 基因多态性 氧化应激 脂质代谢 

分 类 号：R714.244[医药卫生—妇产科学]