目的：探究包头地区汉族人群凝血因子Ⅻ活性及基因多态性与复发性流产(RSA)发生风险之间的相关性。方法：选取RSA患者及健康妊娠人群作为研究对象,测定凝血因子Ⅻ活性,采用聚合酶链式反应-限制性片段长度多态性(PCR-RFLP)法分析FⅫ基因单核苷酸多态性(SNP)rs1801020基因型组成,两组间结果进行差异性分析,明确FⅫ基因SNP rs1801020在不同遗传模型下与RSA发生的相关性。结果：两组人群FⅫ基因SNP rs1801020基因型、等位基因频率分布差异具有统计学意义(P＜0.05);RSA组T等位基因分布频率低于对照组(χ2=8.756,OR=2.043,95%CI: 1.267-3.295,P＜0.05);RSA组CT基因型频率高于对照组,而TT基因型频率低于对照组,差异有统计学意义(χ2=9.905,OR=2.611,95%CI: 1.447-4.713,P＜0.05);RSA患者FⅫ活性在rs1801020基因型中有差别,活性由高到低分别为CC、CT、TT;FⅫ基因SNP rs1801020在共显性、显性、超显性模型下与RSA发病风险相关(OR=2.611,2.636,2.470,P＜0.05);与TT基因型相比,CT、CT+CC基因型会提高RSA的发生风险;与CC+TT基因型相比,CT基因型会提高RSA的发生风险。结论：FⅫ基因SNP rs1801020在两组间的分布差异可能与包头地区汉族女性RSA患病风险相关;与TT基因型相比,突变杂合子CT基因型可能会提高RSA的发生风险;FⅫ基因rs1801020位点是等位基因T时会引起FⅫ活性降低。
Objective: To investigate the relationship between the activity and gene polymorphism of coagulation factor Ⅻ and the risk of recurrent spontaneous abortion (RSA) in Baotou Han population. Methods: RSA patients and healthy pregnant women were selected as the research objects. The activity of coagulation factor Ⅻ was measured. The genotype composition of FⅫ gene single nucleotide polymorphism (SNP) rs1801020 was analyzed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). The results of the two groups were analyzed to determine the correlation between FⅫ gene SNP rs1801020 and RSA under different genetic models. Results: There were significant differences in the genotype and allele frequency distribution of SNP rs1801020 in FⅫ gene between the two groups (P＜0.05); the frequency of T allele in RSA group was lower than that in control group (χ2=8.756, OR=2.043, 95%CI: 1.267-3.295,P<0.05); the frequency of CT genotype in RSA group was higher than that in control group, while the frequency of TT genotype was lower than that in control group, and the difference was statistically significant (χ2=9.905, OR=2.611, 95%CI: 1.447-4.713,P＜0.05); FⅫ activity in RSA patients was different among rs1801020 genotypes, and the order of activity was CC, CT and TT. FⅫ SNP rs1801020 was associated with the risk of RSA under codominant, dominant and overdominant models (OR=2.611, 2.636, 2.470, P＜0.05); compared with TT genotype, CT and CT+CC genotypes could increase the risk of RSA; compared with CC+TT genotype, CT genotype could increase the risk of RSA. Conclusion: The difference in the distribution of FⅫ rs1801020 between the two groups may be related to the risk of RSA in Baotou Han women. Compared with TT genotype, mutant heterozygous CT genotype may increase the risk of RSA, the T allele of rs1801020 locus of FⅫ gene can cause the decrease of FⅫ activity.
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