[Analysis of point mutations in interleukin-11 gene in the population of infertile patients and fertile control women].

OBJECTIVE: The interleukin-11 (IL-11) is one of the most important signaling factors in the process of decidua-lization and embryo-maternal cross talk during the embryo implantation. We investigated the prevalence of the IL-11 gene point variants in the population of infertile women and fertile control subjects. DESIGN: A cohort study. SETTING: Department of Obstetrics and Gynecology, Faculty of Medicine and University Hospital of Charles University, Pilsen. SUBJECTS AND METHODS: The population to screen consisted of 354 infertile women. The control population was comprised of 195 healthy fertile subjects. For the mutational analysis, the temperature gradient gel electrophoresis (TGGE) and direct sequencing had been used. The groups of fertile controls and infertile patients were compared for statistically significant difference using the Fisher´s 2 by 2 Exact test. RESULTS: Thirteen potentially functional IL-11 gene variants, the G to A transversions at the position 3651 (G3651A) leading to the arginin to histidin exchange on the position 113 (R113H) were detected in the group of infertile women. No mutations were identified in the control group, which means that the frequency of functionally relevant mutations of the IL-11 gene in infertile women is significantly enhanced in comparison with controls (p = 0.01, Fisher´s 2 by 2 Exact test). CONCLUSION: The results prove the presence of the potentially functionally relevant IL-11 gene variants in the population of infertile women. The presence of variants does not have to lead directly to decrease fertility but may contribute to the dysbalance of cytokine milieu which is needed for the decidualization as well as subsequent embryo implantation. Even thought IL-11 gene variants occur infrequently, their impact on molecular events during early phases of pregnancy should be further elucidated.