Balkan Journal of Medical Genetics

INHERITED THROMBOPHILIAS COULD INFLUENCE THE REPRODUCTIVE OUTCOME IN WOMEN WITH SYSTEMIC LUPUS ERYTHEMATOSUS
robeva r1,*, Tanev D2, andonova S3, Nikolova M4, Tomova a1, Kumanov Ph1, Savov a3, Rashkov R2, Kolarov Zl2,*
*Corresponding Author: Professor Zlatimir Kolarov, M.D., Ph.D., D.MSc., Clinic of Rheumatology, Medical University Sofia, 13 Urvich Str., Sofia 1612, Bulgaria. Tel: +359-2-958-93-91. Fax. +359-2-958-23-31. E-mail: zkolarov@abv.bg and Ralitsa Robeva, M.D., Ph.D., Clinical Center of Endocrinology and Gerontology, Medical University Sofia, 2 Zdrave Str., Sofia 1431, Bulgaria. Tel: +359-2-895-60-40. Fax: +359-2-987-41-45. E-mail: rali_robeva@yahoo.com
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Abstract

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 FVleiden, FIIg20210a, and MTHFRC677T polymorphisms was performed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis. No significant differences in the prevalence of the FVleiden, FIIg20210a, and MTHFRC677T polymorphisms between patients and controls were established. Patients with FVleiden had fewer pregnancies (0.57 ± 0.98 vs. 2.18 ± 1.58; p = 0.007) than the others, while no significant differences in the reproductive history of FIIg20210a carriers and non-carriers were observed (p >0.05). In the SLE group, 41.67% of women with the MTHFRC677T TT genotype had at least one miscarriage in comparison to only 14.00% of the other female patients (p = 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 FVleiden and MTHFRC677T 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.

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