Contributions
Abstract: PB2094
Type: Publication Only
Background
Primary immune thrombocytopenia (ITP) is a rare hematological disease with unknown etiology. It is characterized by heterogeneity of the laboratory parameters as well as the features of clinical manifestation. DNA polymorphism of several cytokine genes has been suggested to modulate the risk of ITP development or/and treatment response in distinct population groups. There is no data on the prevalence of cytokine gene polymorphisms in ITP patients from the North-Western region of Russia (NWR).
Aims
To establish the features of genotypes distribution for several cytokine promoter gene polymorphisms in ITP patients from NWR.
Methods
A total of 68 patients (59 women and 9 men) with chronic primary ITP were involved in the study. The median age of the group was 57 years (range: 24-77). The mean duration of ITP was 7 years (2-48). In 19 (32.2%) women, ITP was diagnosed before 30 years old; 26 (38.2%) patients (5 men and 21 women) were diagnosed at age 30-50 years; 23 (33.8%) patients (4 men and 19 women) developed ITP after 50 years old. The control group consisted of 240 healthy persons originated from NWR. Nucleotide variations in the genes coding for interleukin (IL)-1b (-31T/C), IL-6 (-174G/C), IL-10 (-592C/A) and tumor-necrosis factor alpha (TNFA -308 G/A) were discriminated by PCR and subsequent restriction analysis (PCR-RFLP). Intergroup differences in genotype frequencies were assessed by Fisher's exact method. Odds ratios (OR), their 95% confidence intervals (CI) and p-values were calculated by using the GraphPad Prism 5.0 software.
Results
The frequency of the IL-10 -592CC genotype was slightly increased in the ITP group when compared to controls (65.7% vs. 54.0% respectively; OR=1.6, 95% CI: 0.9-3.1, p=0.15). Interestingly, this variant of the IL-10 gene was more prevalent among women than men with ITP (71.2% vs. 25.0% respectively; OR=7.4, 95% CI: 1.4-40.5, p=0.016). When compared to controls, the IL-10 -592CC genotype was significantly overrepresented in the group of women with ITP (71.2% vs. 54.0%; OR=2.1, 95% CI: 1.1-4.2, p=0.044). On the contrary, in the group of affected men we observed the increase of persons who had IL-10 -592A allele (75.0% vs. 46.0% in control group; OR=3.5, 95% CI: 0.7-18.3, p=0.15). Genotype frequencies for other studied genes were similar between the patients and control group as well as between women and men with ITP. We have also found almost 2-fold increase of the IL-1b -31CC frequency in women diagnosed before 30 years old compared to other patients (15.8% vs. 8.2% respectively; OR=2.1, 95% CI: 0.4-10.5, p=0.39). The presence of the TNFA -308A allele was more often seen in patients diagnosed before 50 years old (26.7% vs. 8.7% in other ITP patients; OR=3.8, 95% CI: 0.8-18.8, p=0.12).
Conclusion
We suggest that the IL-10 -592CC genotype is associated with increased risk of ITP in women from NWR. On the other hand, the IL-10 -592A allele could be involved in pathogenesis of ITP in men. Further studies are needed to clarify the significance of TNFA and IL-1b gene polymorphism in ITP development.
Session topic: 31. Other Non-malignant hematopoietic disorders
Keyword(s): Immune thrombocytopenia (ITP), IL-10, Genetic, Gene polymorphism
Abstract: PB2094
Type: Publication Only
Background
Primary immune thrombocytopenia (ITP) is a rare hematological disease with unknown etiology. It is characterized by heterogeneity of the laboratory parameters as well as the features of clinical manifestation. DNA polymorphism of several cytokine genes has been suggested to modulate the risk of ITP development or/and treatment response in distinct population groups. There is no data on the prevalence of cytokine gene polymorphisms in ITP patients from the North-Western region of Russia (NWR).
Aims
To establish the features of genotypes distribution for several cytokine promoter gene polymorphisms in ITP patients from NWR.
Methods
A total of 68 patients (59 women and 9 men) with chronic primary ITP were involved in the study. The median age of the group was 57 years (range: 24-77). The mean duration of ITP was 7 years (2-48). In 19 (32.2%) women, ITP was diagnosed before 30 years old; 26 (38.2%) patients (5 men and 21 women) were diagnosed at age 30-50 years; 23 (33.8%) patients (4 men and 19 women) developed ITP after 50 years old. The control group consisted of 240 healthy persons originated from NWR. Nucleotide variations in the genes coding for interleukin (IL)-1b (-31T/C), IL-6 (-174G/C), IL-10 (-592C/A) and tumor-necrosis factor alpha (TNFA -308 G/A) were discriminated by PCR and subsequent restriction analysis (PCR-RFLP). Intergroup differences in genotype frequencies were assessed by Fisher's exact method. Odds ratios (OR), their 95% confidence intervals (CI) and p-values were calculated by using the GraphPad Prism 5.0 software.
Results
The frequency of the IL-10 -592CC genotype was slightly increased in the ITP group when compared to controls (65.7% vs. 54.0% respectively; OR=1.6, 95% CI: 0.9-3.1, p=0.15). Interestingly, this variant of the IL-10 gene was more prevalent among women than men with ITP (71.2% vs. 25.0% respectively; OR=7.4, 95% CI: 1.4-40.5, p=0.016). When compared to controls, the IL-10 -592CC genotype was significantly overrepresented in the group of women with ITP (71.2% vs. 54.0%; OR=2.1, 95% CI: 1.1-4.2, p=0.044). On the contrary, in the group of affected men we observed the increase of persons who had IL-10 -592A allele (75.0% vs. 46.0% in control group; OR=3.5, 95% CI: 0.7-18.3, p=0.15). Genotype frequencies for other studied genes were similar between the patients and control group as well as between women and men with ITP. We have also found almost 2-fold increase of the IL-1b -31CC frequency in women diagnosed before 30 years old compared to other patients (15.8% vs. 8.2% respectively; OR=2.1, 95% CI: 0.4-10.5, p=0.39). The presence of the TNFA -308A allele was more often seen in patients diagnosed before 50 years old (26.7% vs. 8.7% in other ITP patients; OR=3.8, 95% CI: 0.8-18.8, p=0.12).
Conclusion
We suggest that the IL-10 -592CC genotype is associated with increased risk of ITP in women from NWR. On the other hand, the IL-10 -592A allele could be involved in pathogenesis of ITP in men. Further studies are needed to clarify the significance of TNFA and IL-1b gene polymorphism in ITP development.
Session topic: 31. Other Non-malignant hematopoietic disorders
Keyword(s): Immune thrombocytopenia (ITP), IL-10, Genetic, Gene polymorphism