子痫前期患者APOC1基因rs4420638A/G和-317H1/H2位点多态性的研究  

Analysis of rs4420638A/G and-317H1/H2 polymorphisms of APOC1 gene among Chinese patients with pre-eclampsia

作　　者：孙源 范平[2] 刘青青 白怀[2] 刘兴会 周密 吴玉洁 关林波[2] 李遂焰[1] Sun Yuan;Fan Ping;Liu Qingqing;Bai Huai;Liu Xinghui;Zhou Mi;Wu Yujie;Guan Linbo;Li Suiyan(School of Life Science and Engineering,Southwest Jiaotong University,Chengdu,Sichuan 610031,China;Laboratory of Genetic Disease and Perinatal Medicine,Key Laboratory of Birth Defects and Related Diseases of Women and Children,Ministry of Education,West China Second 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,出生缺陷与相关妇儿疾病教育部重点实验室,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》2020年第7期774-778,共5页Chinese Journal of Medical Genetics

基　　金：四川省科技厅重点研发项目(2019YFS0401);国家自然科学基金(81471463)。

摘　　要：目的探讨载脂蛋白(apolipoprotein,apo)C1基因(APOC1)rs4420638A/G和-317H1/H2位点多态性与中国妇女子痫前期(pre-eclampsia,PE)发生的相关性及其对临床和代谢指标的影响。方法本研究包括289例PE患者和824例无妊娠并发症的对照孕妇。采用Taqman荧光探针和聚合酶链反应-限制性片段长度多态性方法分别测定APOC1 rs4420638A/G和-317H1/H2位点多态性,采用酶法和PEG增强免疫比浊法分别测定血脂和apo水平。结果APOC1基因rs4420638A/G和-317H1/H2位点基因型频率与等位基因频率在PE组和对照组之间差异无统计学意义(P>0.05)。但是,携带rs4420638位点G等位基因的PE患者有更高的血清甘油三酯、非高密度脂蛋白-胆固醇、apoB水平以及apoB/apoA1比值(P<0.05)。携带-317H1/H2位点H2等位基因的PE患者有更小的分娩孕周(P<0.05)。结论APOC1基因rs4420638和-317H1/H2位点多态性与PE患者血浆脂蛋白代谢异常有关。未发现这两个基因多态性与中国妇女PE发生的风险相关联。Objective To assess the association of apolipoprotein(apo)C1(APOC1)gene rs4420638A/G and-317H1/H2 polymorphisms with the risk of pre-eclampsia(PE)and the influence of their genotypes on the clinical and metabolic indexes among Chinese women.Methods In total 289 PE patients and 824 women with uncomplicated pregnancies were included.The rs4420638A/G genotype was determined by a Taqman real-time PCR allelic discrimination assay.The-317H1/H2 genotype was measured through PCR and restriction fragment length polymorphism analysis.Serum lipid and apo levels were measured by an enzymatic kit and a PEG-enhanced immunoturbidimetric assay.Results Allelic and genotypic frequencies of the APOC1 gene rs4420638A/G and-317H1/H2 were not significantly different between the two groups(all P>0.05).However,patients carrying the G allele of the rs4420638A/G locus had higher serum levels of triglyceride,non-HDL-C and apoB,and a higher apoB/apoA1 ratio compared with those with an AA genotype(all P<0.05).Patients carrying the H2 allele of the-317H1/H2 polymorphism had smaller delivery gestational weeks compared with those with the H1H1 genotype(P<0.05).Conclusion Polymorphisms of the APOC1 gene rs4420638 and-317H1/H2 sites may be associated with abnormal lipoprotein metabolism among Chinese patients with PE,though no association was found between variants of the APOC1 gene and the risk of PE among them.

关 键 词：子痫前期 载脂蛋白C1 基因多态性 血脂 载脂蛋白 

分 类 号：R714.244[医药卫生—妇产科学] R440[医药卫生—临床医学]