INTRODUCTION Inherited deficiencies of natural anticoagulants such as antithrombin (AT; gene: SERPINC1), protein C (PC; PROC), and protein S (PS; PROS1), with the prevalence in the general ...European population of 0.02% to 0.17%, 0.2% to 0.3%, and 0.5%, respectively, are associated with increased risk of thromboembolic events. Only a few case reports of Polish deficient patients with known causal mutations have been published so far. OBJECTIVES The aim of the study was to characterize the frequency of SERPINC1, PROC, and PROS1 mutations and their thromboembolic manifestations in patients with AT, PC, or PS deficiencies, inhabiting southern Poland. PATIENTS AND METHODS Ninety unrelated patients (mean SD age, 40.1 13.2 years) with AT (n = 35), PC (n = 28), or PS (n = 27) deficiencies, with a history of venous 73 (81%) or arterial 17 (19%) thromboembolism, were screened for mutations using the Sanger sequencing or multiplex ligation‑dependent probe amplification. RESULTS Twenty mutations (29%) described here were new, mostly in the SERPINC1 and PROC genes. Missense mutations accounted for 84% of all mutations in the PROC gene and approximately 50% of those in the SERPINC1 and PROS1 genes. In all 3 genes, the ratio of nonsense and splice-site mutations was 8% to 31% and 8% to 23%, respectively. The mutation detection rate was 90% for AT or PC when anticoagulant activity was below 70%, while for the PROS1 gene, the rate reached 80% at the free PS levels below 40%. CONCLUSIONS To our knowledge, this is the largest cohort of Polish patients deficient in natural anticoagulants and evaluated for the causal genetic background. Several new Polish detrimental mutations were detected, mostly in AT- and PC‑deficient patients.
The current data are still inconclusive in terms of a genetic component involved in the susceptibility to renal cell carcinoma. Our aim was to evaluate 40 selected candidate polymorphisms for ...potential association with clear cell renal cell carcinoma (ccRCC) based on independent group of 167 patients and 200 healthy controls. The obtained data were searched for independent effects of particular polymorphisms as well as haplotypes and genetic interactions. Association testing implied position rs4765623 in the SCARB1 gene ( OR = 1.688 , 95% CI: 1.104–2.582, P = 0.016 ) and a haplotype in VDR comprising positions rs739837, rs731236, rs7975232, and rs1544410 ( P = 0.012 ) to be the risk factors in the studied population. The study detected several epistatic effects contributing to the genetic susceptibility to ccRCC. Variation in GNAS1 was implicated in a strong synergistic interaction with BIRC5. This effect was part of a model suggested by multifactor dimensionality reduction method including also a synergy between GNAS1 and SCARB1 ( P = 0.036 ). Significance of GNAS1-SCARB1 interaction was further confirmed by logistic regression ( P = 0.041 ), which also indicated involvement of SCARB1 in additional interaction with EPAS1 ( P = 0.008 ) as well as revealing interactions between GNAS1 and EPAS1 ( P = 0.016 ), GNAS1 and MC1R ( P = 0.031 ), GNAS1 and VDR ( P = 0.032 ), and MC1R and VDR ( P = 0.035 ).
Pollinators provide vital ecosystem services across croplands, yet simultaneously they are influenced by agricultural practices. Nevertheless, only a few studies have explored the potential ...interactions between soil fertilisers and pollinators. The aim of the current study, which was carried out in Poland in 2015, was to investigate the effect of different fertiliser regimes on bumblebee flower visitation rate and seed yield in crops of the field bean (Vicia faba L.). Our results show that the number of bumblebee visits may be affected by the choice of crop fertiliser. We detected differences in bumblebee number between fertiliser treatments. The organic fertiliser (manure) treatment resulted in the highest bumblebee visitation, although this did not differ significantly from NP, no fertiliser and NK treatments. On the other hand, we observed lower numbers of bumblebees on field bean plots treated with N, NPK, and PK inorganic fertilisers. Manure application also boosted plant height and resulted in a high yield similar to other balanced fertilisers (NPK and PK). Therefore, manure was the only fertiliser that resulted in a high field bean yield and at the same time attracted the main pollinators of the crop. Thus, we suggest that appropriate management practices influence both plant growth and also pollination services and we show that modern agriculture can make compromise between effectiveness and nature conservation.
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