摘要
目的分析质膜Ca^(2+)-ATP酶1(ATP2B1)基因多态性协同第10号染色体缺失性磷酸酶和张力蛋白同源物基因(PTEN)水平与新疆地区子痫前期及妊娠结局的关系。方法将2019年1月至2020年2月就诊于新疆维吾尔自治区人民医院的90例子痫前期患者纳入病例组,另将同期于该院孕检的100例孕妇纳入健康组。通过聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术测定两组ATP2B1基因rs2681472、rs17249754、rs2070759位点的单核苷酸多态性(SNP),分析不同位点对应PTEN水平的差异,并分析ATP2B1基因多态性协同PTEN水平与子痫前期及妊娠结局的关系。结果病例组ATP2B1基因rs2681472位点TT基因型频率比对照组高(P<0.05);两组rs2681472位点C、T等位基因频率相比,差异有统计学意义(P<0.05);病例组ATP2B1基因rs17249754、rs2070759位点不同基因型及等位基因频率与对照组相比,差异均无统计学意义(P>0.05);病例组PTEN水平[(120.13±30.65)ng/L]比对照组[(213.06±25.94)ng/L]低(P<0.05);ATP2B1基因rs2681472位点TT型的PTEN水平<CT型<CC型,差异有统计学意义(P<0.05);ATP2B1基因rs2681472位点多态性协同PTEN水平预测子痫前期的ROC曲线下面积为0.873;不良妊娠组ATP2B1基因rs2681472位点TT基因型频率比正常妊娠组高,PTEN水平比正常妊娠组低(P<0.05)。结论对于新疆地区,ATP2B1基因rs2681472位点中的TT基因型可能是诱发子痫前期及不良妊娠结局的风险因素,且协同PTEN水平有助于预测子痫前期。
Objective To analyze the relationship between ATP2B1 gene polymorphism and chromosome 10 deletion phosphatase and tensin homolog(PTEN)levels and preeclampsia and pregnancy outcome.Methods 90 preeclampsia patients from January 2019 to February 2020 were enrolled into the case group,and 100 pregnant women were enrolled into the health group.The polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP)technique was used to detect the single-nucleotide polymorphism of rs2681472,rs17249754 and rs2070759 of ATP2B1 gene,the relationship between the level of ATP2B1 polymorphism and PTEN and the outcome of preeclampsia and pregnancy was analyzed.Results The frequency of TT genotype at rs2681472 of ATP2B1 gene in the case group was higher than that in the control group(P<0.05),and the fre-quency of C and T alleles at rs2681472 was significantly different between the two groups(P<0.05).There was no significant difference in genotype and allele frequency of ATP2B1 gene rs17249754 and rs2070759 between case group and control group(P>0.05),and the level of PTEN[(120.13±30.65)ng/L]in case group was lower than that in control group[(213.06±25.94)ng/L](P<0.05).The level of TT genotype of ATP2B1 gene was significantly lower than that of CC genotype of CT(P<0.05),and the area under ROC curve of preeclampsia was 0.873 when ATP2B1 gene rs2681472 was combined with PTEN The fre-quency of TT genotype at rs2681472 of ATP2B1 gene in abnormal pregnancy group was higher than that in normal pregnancy group,and the level of PTEN was lower than that in normal pregnancy group(P<0.05).Conclusion The TT genotype in the rs2681472 locus of the ATP2B1 gene may be a risk factor for inducing preeclampsia and adverse pregnancy outcomes in Xin-Jiang,and the synergistic PTEN level can help predict preeclampsia.
作者
努尔比也·地里夏提
热米拉·艾尔肯
祖丽菲娅·阿布力克木
Nuerbiye·Dilixiati;Remila·Aierken;Zhulifeiya·Abulikemu(People’s Hospital of Xinjiang Uygur Autonomous Region,Urumqi,Xinjiang 830001,China)
出处
《中国优生与遗传杂志》
2021年第9期1256-1260,共5页
Chinese Journal of Birth Health & Heredity