High-throughput genotyping of a common deletion polymorphism disrupting the TRY6 gene and its association with breast cancer risk

<p>Abstract</p> <p>Background</p> <p>Copy number polymorphisms caused by genomic rearrangements like deletions, make a significant contribution to the genomic differences between two individuals and may add to disease predisposition. Therefore, genotyping of such deletion polymorphisms in case-control studies could give important insights into risk associations.</p> <p>Results</p> <p>We mapped the breakpoints and developed a fluorescent fragment analysis for a deletion disrupting the <it>TRY6 </it>gene to exemplify a quick and cheap genotyping approach for such structural variants. We showed that the deletion is larger than predicted and encompasses also the pseudogene <it>TRY5</it>. We performed a case-control study to test an association of the <it>TRY6 </it>deletion polymorphism with breast cancer using a single nucleotide polymorphism which is in 100% linkage disequilibrium with the deletion. We did not observe an effect of the deletion on breast cancer risk (OR 1.05, 95% CI 0.71–1.56).</p> <p>Conclusion</p> <p>Although we did not observe an association between the <it>TRY6 </it>deletion polymorphism and breast cancer risk, the identification and investigation of further deletions using the present approach may help to elucidate their effect on disease susceptibility.</p

Superconducting instability of a non-centrosymmetric system

The Fermi gas approach to the weak-coupling superconductivity in the non-centrosymmetric systems lead to a conclusion of an approximately spin-orbit coupling independent critical temperature of the singlet states as well as the triplet states defined by the order parameter aligned with the antisymmetric spin-orbit coupling vector. We indicate that the above results follow from a simplified approximation of a density of states by a constant Fermi surface value. Such a scenario does not properly account for the spin-split quasiparticle energy spectrum and reduces the spin-orbit coupling influence on superconductivity to the bare pair-breaking effect of a lifted spin degeneracy. Applying the tight-binding model, which captures the primary features of the spin-split energy band, i.e., its enhanced width and the spin-orbit coupling induced redistribution of the spectral weights in the density of states, we calculate the critical temperature of a non-centrosymmetric superconductor. We report a general tendency of the critical temperature to be suppressed by the antisymmetric spin-orbit coupling. We indicate that, the monotonic decrease of the critical temperature may be altered by the spin-orbit coupling induced van Hove singularities which, when driven to the Fermi level, generate maxima in the phase diagram. Extending our considerations to the intermediate-coupling superconductivity we point out that the spin-orbit coupling induced change of the critical temperature depends on the structure of the electronic energy band and both – the strength and symmetry of the pair potential. Finally, we discuss the mixed singlet-triplet state superconducting instability and establish conditions concerning the symmetry of the singlet and triplet counterparts as well as the range of the spin-orbit coupling energy which make such a phase transition possible

Modification and Properties of Cellulose Nonwoven Fabric—Multifunctional Mulching Material for Agricultural Applications

The paper describes a method of modifying a commercial viscose nonwoven fabric and its use as a modern mulching material in agriculture. The conducted research confirmed that the proposed modification of the viscose nonwoven fabric could be successfully used as a multipurpose and, above all, completely biodegradable nonwoven crop cover, which will eliminate the problem of disposal after the harvest period. Modified cellulose nonwoven fabric was obtained by staining with NB—BT helion brown, then padding with potassium nitrate (KNO3) solution (used as a fertilizer) and finally coating with polylactide (PLA) solution. The characterisation of the nonwoven fabric included structural analysis, physicochemical properties and mechanical tests. The modified cellulose nonwovens were used in the tunnel cultivation of tomatoes as a heat-retardant, water-absorbing, antiweed mulching material that prevents soil infestation and slowly releases fertilizers

The Use of Capacitive and Resistive Energy Transfer in Postpartum Pain Management in Women after Perineal Trauma

Perineal pain occurs in 97% of women with episiotomy or first- and second-degree perineal tears on the first day after delivery. The study aimed to assess the impact of capacitive and resistive energy transfer (TECAR) on perineal pain and discomfort in the first two postpartum days. The prospective randomized double-blind study was performed with the pain and discomfort assessment using the Visual Analogue Scale at baseline and after both TECAR interventions. Characteristics data, delivery information, and the number of painkillers taken were collected. The assumed significance level was α 2 (24.1; 28.9). Pain reduction at rest, when walking, and discomfort reduction when walking were significantly higher in the TECAR group compared to the sham group (p p p p = 0.004). TECAR has been shown to provide more immediate and significant reduction in perineal pain and discomfort

Genetic variation in genes encoding for polymerase zeta subunits associates with breast cancer risk, tumour characteristics and survival

Chromosomal instability is a known hallmark of many cancers. DNA polymerases represent a group of enzymes that are involved in the mechanism of chromosomal instability as they have a central function in DNA metabolism. We hypothesized that genetic variation in the polymerase genes may affect gene expression or protein configuration and by that cancer risk and clinical outcome. We selected four genes encoding for the catalytic subunits of the polymerases beta, delta, theta and zeta (POLB, POLD1, POLQ and REV3L, respectively) and two associated proteins (MAD2L2 and REV1) because of their previously reported association with chromosomal instability and/or tumorigenesis. We selected potentially functional and most informative tagging single nucleotide polymorphisms (SNPs) for genotyping in a population-based series of 783 Swedish breast cancer (BC) cases and 1562 controls. SNPs that showed a significant association in the Swedish population were additionally genotyped in a Polish population consisting of 506 familial/early onset BC cases and 568 controls. SNPs in all three polymerase zeta subunit genes associated either with BC risk or prognosis. Two SNPs in REV3L and one SNP in MAD2L2 associated with BC risk: rs462779 (multiplicative model: OR 0.79, 95% CI 0.68-0.92), rs3204953 (dominant model: OR 1.28, 95% CI 1.05-1.56) and rs2233004 (recessive model: OR 0.49, 95% CI 0.28-0.86). Homozygous carriers of the minor allele C of the third SNP in REV3L, rs11153292, had significantly worse survival compared to the TT genotype carriers (HR 2.93, 95% CI 1.34-6.44). Minor allele carriers of two REV1 SNPs (rs6761391 and rs3792142) had significantly more often large tumours and tumours with high histological grade and stage. No association was observed for SNPs in POLB, POLQ and POLD1. Altogether, our data suggest a significant role of genetic variation in the polymerase zeta subunit genes regarding the development and progression of BC

Genetic variation in ALCAM and other chromosomal instability genes in breast cancer survival

Chromosomal instability is a hallmark of many cancers and it has a potential to predict clinical outcome of a cancer patient. We hypothesized that genes whose expression status differs between chromosomal stable and unstable breast tumors represent target genes for the identification of genetic variants predicting breast cancer (BC) risk, disease progression, and survival. We used a published list of 38 genes associated with chromosomal instability as a basis for searching potentially functional and informative tagging single nucleotide polymorphisms (SNPs). As a result, 33 SNPs in 16 genes were genotyped in a population-based series of 783 Swedish BC cases. Two SNPs in the ALCAM gene associated with BC-specific survival. For rs1044243, the HR was 4.35 (95% CI 1.34-14.18), and for rs1157, the HR was 3.42 (95% CI 1.32-8.83) for the homozygous carriers of the minor alleles. For the minor allele carriers of CCL18 SNP rs14304, we observed a significant association with aggressive tumor characteristics: large tumor size (OR 1.53, 95% CI 1.10-2.14), positive lymph node metastasis (OR 1.75, 95% CI 1.02-3.00), and high stage (OR 1.37, 95% CI 1.02-1.85). In a Polish population consisting of 506 familial/early onset BC cases, no association with event-free survival for the ALCAM SNPs nor any association with tumor characteristics for the CCL18 SNP were observed, suggesting either a chance finding in the Swedish population or population-based or etiological differences between sporadic and familial/early onset BC