Cytogenetic and immunogenetic analysis of recurrent pregnancy loss in women

Abstract

Karyotyping of 366 couples (732 individuals) with early recurrent pregnancy losses in anamnesis revealed chromosomal anomalies in 4.09% (30 cases)-within them 2.05% carry reciprocal translocations, in 0.82%-Robertsonian translocations, 0.55% carry numerical and structural gonosomal anomalies and in 0.27%-marker chromosome of unknown origin. The risk of early reproductive losses in women after exclud ing the cytogenetic component increases three fold if SNPs 1082GG, 592CC, 819CC of IL 10 gene and IFN γ + 874AT or 874AA genotypes are present. ELISA-mediated detection of serum IL 10 and IFN γ showed a possibly significant increase of IFN γ in women with the history of early reproductive losses when compared to reproductively healthy women. We are proposing a complex cyto-and immunogenetic investi gation in cases of early reproductive losses in women. One of the important issues of reproduction are the immunological mechanisms of pregnancy maintenance, where the disbalance in the genetically determined Th1-and Th2-cytokine levels may be one of the causes of early fetus elimination.

Association of interleukin-10 gene promoter polymorphisms with recurrent pregnancy loss: a meta-analysis

“…Several studies have identified single-nucleotide polymorphisms (SNPs) of IL-10 gene can significantly influence the levels of IL-10 production and key obstetric complications, particularly the promoter variants control IL-10 secretion [13][14][15]. Though a number of studies have been conducted to investigate the association between promoter polymorphisms of IL-10 with RPL, the results are not consistent [14][15][16][17][18][19][20][21][22][23][24]. In addition, three earlier meta-analyses yielded conflicting results regarding the association of the IL-10 promoter SNP (rs1800896: −1802A/G) with RPL [20,25,26].…”

“…The remaining 17 studies were full-text reviewed, and five studies were excluded, among which, one was not about recurrent abortion and not a case-control study [13], two were of unavailable genotype [32,33] and the other two were metaanalysis [25,26]. Finally, in the current study, 12 eligible case-control studies that meet the inclusion criteria were included in our meta-analysis [14,16,17,[19][20][21][22][23][24][34][35][36].…”

Association between IL-6 −174 G/C, IL-6 −634 G/C, and IFN-γ +874 A/T polymorphisms and susceptibility to recurrent pregnancy loss: a meta-analysis

“…This investigation differs from previous meta-analyses assessing the relationship between the aforementioned polymorphisms and RPL risk performed by Medica et al [43] and Bombell et al [44] in several ways. In the present study, an extra nine studies [14][15][16][17][22][23][24][25], 1097 RPL patients, and 1192 controls were included, and additional meta-analyses were performed to examine the potential association between the −634 G/C IL-6 polymorphism and RPL. Moreover, we carried out further ethnicity-specific analysis.…”

“…Subsequently, three documents were excluded for being review articles [37][38][39]. Thus, 15 relevant studies met the inclusion criteria [14][15][16][17][18][19][20][21][22][23][24][25][26][27][28]), of which, eight were related to the IL-6 −174 G/C polymorphism and involved 859 patients and 1018 controls, four concerned the IL-6 −634 G/C polymorphism and included 343 patients and 340 controls, while six referred to the IFN-γ +874 A/T polymorphism and comprised 622 patients and 712 controls (Table 1).…”

“…Based on their functional significance, the roles of IL-6 −174 G/C, IL-6 −634 G/C, and IFN-γ +874 A/T polymorphisms in RPL susceptibility have been examined, with conflicting results [14][15][16][17][18][19][20][21][22][23][24][25][26][27][28]. This disparity may have been caused by small sample sizes, low statistical power, ethnic variability between studies, and/or clinical heterogeneity.…”