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Introduction A growing body of evidence shows that genetics plays a vital role in the development and progression of retinopathy of prematurity (ROP). Perinatal inflammation is also considered an important risk factor of ROP. Therefore, understanding the interplay of genetics and susceptibility to inflammation might shed light on the pathogenesis of ROP and make its screening and treatment more effective in preventing visual impairment in premature infants. Material and methods This study investigated the correlation of inflammation-associated gene polymorphisms: IL-1β +3953 C>T, IL-1RN VNTR 86 bp, IL-6 -174 G>C, IL-6 -596 G>A, and TNF-α -308 G>A as well as demographic and clinical characteristics of ROP in preterm infants (n = 90). Results Our results demonstrate that IL-1RN rs2234663 1/1 genotype prevails in infants with ROP that regresses without intervention, when compared to those requiring laser photocoagulation/anti-VEGF injection (p = 0.031). Genotype 2/2 of IL-1RN occurs more frequently in children with severe ROP (28.6%) than in the group in which ROP regressed spontaneously (4.0%). The analysis revealed also differences between the genotypes of IL-1RN in ROP patients with intrauterine infection and in patients who had ROP without intrauterine infection; however, this was not statistically significant. Other studied polymorphisms were not associated with ROP development or its progression. Conclusions These results suggest that different genotypes of IL-1RN might have an impact on the course of ROP. Genotype 2/2 of IL-1RN gene may predispose to ROP progression.

Introduction : Bronchopulmonary dysplasia (BPD) is a chronic lung disease that affects primarily preterm infants. Genetic factors are also taken into consideration in the pathogenesis of BPD. Genetic predispositions to higher production of inflammation mediators seem to be crucial. Material and methods: The aim of this study was to evaluate the possible relationship between polymorphisms: interleukin-1β +3953 C>T, interleukin-6 -174 G>C and -596 G>A, tumour necrosis factor -308 G>A and interleukin-1RN VNTR 86bp and the occurrence of BPD in a population of 100 preterm infants born from singleton pregnancy, before 32+0 weeks of gestation, exposed to antenatal steroids therapy, and without congenital abnormalities. Results : In the study population BPD was diagnosed in 36 (36%) newborns. Among the studied polymorphisms we found the higher prevalence for BPD developing of the following genotypes: 1/2 (OR 1.842 [0.673-5.025] and 2/2 IL-1RN (OR 1.75 [0.418-6.908] 86bpVNTR; GC (2.222 [0.658-8.706]) and CC IL-6 -174G>C (1.6 [0.315-8.314]) and GA (2.753 [0.828-10.64]) and AA (1.5 [0.275-8.067] IL-6 -596G>A), GA 1.509 (0.515-4.301) TNF-α -308G>A. However, these finding were not statistically significant. Conclusions : Genetic factors are undeniably involved in the pathogenesis of BPD. In the times of individualised therapy finding genes responsible for BPD might allow the development of new treatment strategies. A new way of specific therapy could ensure the reduction of complications connected with BPD and treatment costs.

Introduction: Colorectal cancer (CRC) is the most common cancer among patients, and its aetiology is still not precisely known. It is believed that 15–30% of colorectal cancers are genetically determined. P-glycoprotein (P-gp) encoded by the MDR1 gene in normal conditions plays an important role in the action of colon epithelial cells. However, the MDR1 polymorphism influences the P-gp expression and can weaken its effect against xenobiotics (procarcinogens) and increase the frequency of CRC. Aim: To evaluate the correlation between the MDR1 C3435T and G2677T/A polymorphisms and the risk of colorectal cancer. Material and methods: The study group with colorectal cancer included 47 women and 60 men while the control group consisted of 110 healthy patients. The diagnosis in patients suffering from CRC was confirmed by histopathological report. Genetic analysis was performed using PCR-RFLP method. Results: We showed only a correlation between the frequency of CT and TT genotypes of C3435T polymorphism and the risk of colorectal cancer in younger age. There was no correlation between the C3435T and G2677T/A polymorphisms of the MDR1 gene and other clinical parameters. Conclusions: Our findings suggest that T allele carriers of C3435T polymorphism have an increased risk of CRC. However, further studies are needed on a much larger number of patients and genes associated with metabolism and transport of xenobiotics including procarcinogens.