Robeva R, Tanev D, Andonova S, Nikolova M, Tomova A, Kumanov Ph, Savov A, Rashkov R, Kolarov Zl
Clinical Center of Endocrinology and Gerontology, Medical University, Sofia, Medical Faculty, Sofia, Bulgaria.
Clinic of Rheumatology, Medical University, Sofia, Medical Faculty, Sofia, Bulgaria.
Balkan J Med Genet. 2017 Jun 30;20(1):21-26. doi: 10.1515/bjmg-2017-0011.
Systemic lupus erythematosus (SLE) is a chronic autoimmune disease associated with different reproductive complications in the affected women. Inherited thrombophilias are genetic factors increasing the risk for thromboembolism and recurrent pregnancy loss, but their influence on other reproductive disturbances in SLE patients has not been completely clarified. Two hundred and twenty-three Caucasian women (112 with SLE and 111 controls) were included in the study. Complete reproductive history of all SLE patients was carefully obtained. Genotyping for the FV, FII, and MTHFR polymorphisms was performed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis. No significant differences in the prevalence of the FV, FII, and MTHFR polymorphisms between patients and controls were established. Patients with FV had fewer pregnancies (0.57 ± 0.98 . 2.18 ± 1.58; = 0.007) than the others, while no significant differences in the reproductive history of FII carriers and non-carriers were observed ( >0.05). In the SLE group, 41.67% of women with the MTHFR TT genotype had at least one miscarriage in comparison to only 14.00% of the other female patients ( = 0.030). While the prevalence of the investigated thrombophilias was similar in patients with SLE and healthy women, a substantial influence of the inherited prothrombotic factors on the reproductive history of patients was revealed. The investigations of the FV and MTHFR polymorphisms in SLE patients could help to identify women at highest risk for reproductive failure and thus, further studies in other ethnic groups would be of strong clinical importance.
系统性红斑狼疮(SLE)是一种慢性自身免疫性疾病,与患病女性的不同生殖并发症相关。遗传性血栓形成倾向是增加血栓栓塞和复发性流产风险的遗传因素,但其对SLE患者其他生殖障碍的影响尚未完全阐明。该研究纳入了223名白人女性(112名SLE患者和111名对照)。仔细获取了所有SLE患者的完整生殖史。通过聚合酶链反应-限制性片段长度多态性(PCR-RFLP)分析对FV、FII和MTHFR基因多态性进行基因分型。患者与对照之间FV、FII和MTHFR基因多态性的患病率未发现显著差异。FV基因多态性患者的妊娠次数(0.57±0.98. 2.18±1.58; = 0.007)少于其他患者,而FII基因携带者和非携带者的生殖史未观察到显著差异(>0.05)。在SLE组中,MTHFR TT基因型的女性中有41.67%至少有一次流产,而其他女性患者中这一比例仅为14.00%( = 0.030)。虽然SLE患者和健康女性中所研究的血栓形成倾向的患病率相似,但揭示了遗传性促血栓形成因素对患者生殖史有重大影响。对SLE患者FV和MTHFR基因多态性的研究有助于识别生殖失败风险最高的女性,因此,在其他种族群体中进行进一步研究具有重要的临床意义。