一氧化氮合酶3基因rs2070744位点的单核苷酸多态性与不明原因复发性流产的相关性研究

Study on the relationship between NOS3 gene rs2070744 SNP and unexplained recurrent abortion

目的 探讨一氧化氮合酶3(NOS3)基因rs2070744位点的单核苷酸多态性(SNP)与不明原因复发性流产(URSA)的相关性。方法 选取2019年1月至2020年8月甘肃省妇幼保健院复发性流产门诊诊治的150例不明原因复发性流产患者作为研究对象,设为病例组。选取同期进行体检的150例健康女性设为对照组。采用SNaPshot多重SNP分型技术检测两组NOS3基因rs2070744位点的SNP分布情况。研究组间基因型分布差异,分析NOS3基因rs2070744基因多态性和RSA的相关性。结果 两组文化程度、职业及工作性质比较,差异具有统计学意义(P<0.05)。在共显性遗传模型中,与T/T基因型相比,携带C/T基因型女性发生URSA的风险降低0.53倍(OR=0.53,95%CI:0.292~0.946)。等位基因模式中,与T等位基因相比,携带C等位基因的孕妇罹患复发性流产的风险降低0.46倍(OR=0.46,95%CI:0.269~0.790)。在显性遗传模型中,与T/T基因型相比,携带C/T-C/C基因型女性发生URSA的风险降低0.47倍(OR=0.47,95%CI:0.265~0.844)。rs2070744位点SNP与环境间交互作用均无统计学意义(P>0.05)。结论 NOS3基因rs2070744基因多态性可能与URSA的患病风险相关,但仍需要在大样本量的病例对照研究和不同人群中进一步验证。

Objective To explore the correlation between single nucleotide polymorphism(SNP) at rs2070744 of nitric oxide synthase 3(NOS3) gene and unexplained recurrent spontaneous abortion(URSA). Methods A total of 150 patients with unexplained recurrent abortion treated in the department of outpatient of Gansu Provincial Maternity and Childcare Hospital from January 2019 to August 2020 were selected as the research objects and set as the case group. 150 healthy women who underwent physical examination during the same period were selected as the control group. SNP distribution at rs2070744 of NOS3 gene in two groups was detected by SNaPshot multiple SNP typing technique. The correlation between NOS3 gene rs2070744 polymorphism and RSA was analyzed. Results There were statistical differences between the two groups in the education degree, occupation and job category(P<0.05). In the codominant inheritance model, compared with the T/T genotype, the risk of URSA in women with the C/T genotype was reduced by 0.53 times(OR=0.53, 95%CI:0.292-0.946). In the allelic inheritance model, compared with the T allele, the risk of URSA of pregnant women carrying the C allele was reduced by 0.46 times(OR=0.46, 95%CI:0.269-0.790). Meanwhile, in the dominant inheritance model, compared with the T/T genotype, the risk of URSA in women with the C/T-C/C genotype was reduced by 0.47 times(OR=0.47, 95%CI:0.265-0.844). In addition, there was no statistical significance in the interaction between SNP at rs2070744 and environment(P>0.05). Conclusions The SNP at rs2070744 of the NOS3 gene may be correlated with the risk of URSA, which, however, remains to be further verified in case-control studies with large sample sizes and different populations.