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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MATERIALS AND METHODS

Subjects. Two hundred and twenty-three Caucasian women [mean age 40.77 ± 11.94 years (20-68)] were included in the study. One hundred and twelve patients fulfilled the modified 1997 American College Rheumatology (ACR) classification criteria for SLE [13]. Secondary antiphospholipid syndrome (sAPS) according to the accepted criteria was presented in 15.18% of them [14]. All women underwent a complete general assessment and filled-out questionnaires on their reproductive history. The age of menarche, menstrual regularity (before the SLE onset and treatment), infertility, number of pregnancies, miscarriages, intentional abortions, stillbirths (fetal loss after 20 gestational weeks) and live children were self-reported. One hundred and eleven controls were collected from the medical staff and students. They were all clinically healthy women without known connective tissue diseases. The experimental protocol was explained to all participants and written informed consent was obtained. The study was approved by the institutional Ethics Committee. Genetic Assay. All participating women provided peripheral blood samples for Dna collected in EDTa vacutainers. Genomic DNA was extracted with a stan dard salt extraction procedure. Genotyping for the FVleiden, FIIg20210a and MTHFRC677T polymorphisms was performed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis [15]. The control group of women was used only for a comparison of the genetic polymorphism prevalence. The distribution of all investigated genotypes in healthy females was in agreement with the Hardy-Weinberg equilibrium. Statistical Analyses. The results were presented as mean ± standard deviation (SD) (median) for continuous variables or as a frequency (%). Categorical data were analyzed by the χ2 test or Fisher’s exact test. Differences between two groups were established with a Mann-Whitney test, while a Kruskal-Wallis test was used for comparisons of the three groups. Logistic regression analysis was used where appropriate. A p value of 0.05 was considered significant. Statistical analysis was conducted by the Statistical Package for the Social Sciences (SPSS), for Windows (SPSS Inc., Chicago, IL, USA).

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