The Association of ADAMTS7 Gene Polymorphisms with the Risk of Coronary Artery Disease Occurrence and Cardiovascular Survival in the Polish Population: A Case-Control and a Prospective Cohort Study.

The aim of this study was to investigate whether the polymorphisms of the ADAMTS7 gene affect the risk of occurrence and mortality due to CAD. The study group included 231 patients diagnosed with CAD and 240 control blood donors. The genotyping of specified polymorphisms, i.e., rs1994016, rs3825807, and rs7173743, was performed using the TaqMan-PCR. We found that the C allele carriers of the rs1994016 and A allele carriers of the rs3825807 polymorphisms increased the risk of CAD, respectively: OR = 1.72, p = 0.036; OR = 1.64, p = 0.04. Moreover, we studied the biological interactions of specified variants, i.e., rs3825807, rs1994016, and rs7173743, and previously approved risk factors of CAD. We demonstrated here that selected polymorphisms of ADAMTS7 increased the risk of CAD altogether with abnormalities of total cholesterol and LDL concentrations in serum. Although survival analyses did not reveal statistical significance, we observed a trend for the AA genotype of the rs3825807 ADAMTS7, which may predispose to death due to CAD in a 5-year follow-up. In conclusion, the ADAMTS7 polymorphisms investigated in this study may increase the risk of occurrence and/or death due to CAD in the Polish population.

Association between Platelet-Derived Growth Factor Receptor Alpha Gene Polymorphisms and Platelet-Rich Plasma's Efficiency in Treating Lateral Elbow Tendinopathy-A Prospective Cohort Study.

Individual differences in the response to platelet-rich plasma (PRP) therapy can be observed among patients. The genetic background may be the cause of this variability. The current study focused on the impact of genetic variants on the effectiveness of PRP. The aim of the present study was to analyze the impact of single nucleotide polymorphisms (SNP) of the platelet-derived growth factor receptor alpha (PDGFRA) gene on the effectiveness of treating lateral elbow tendinopathy (LET) with PRP. The treatment's efficacy was analyzed over time (2, 4, 8, 12, 24, 52 and 104 weeks after the PRP injection) on 107 patients using patient-reported outcome measures (PROM) and achievement of a minimal clinically important difference (MCID). Four SNPs of the PDGFRA gene (rs7668190, rs6554164, rs869978 and rs1316926) were genotyped using the TaqMan assay method. Patients with the AA genotypes of the rs7668190 and the rs1316926 polymorphisms, as well as carriers of the T allele of rs6554164 showed greater effectiveness of PRP therapy than carriers of other genotypes. Moreover, the studied SNPs influenced the platelets' parameters both in whole blood and in PRP. These results showed that PDGFRA gene polymorphisms affect the effectiveness of PRP treatment. Genotyping the rs6554164 and the rs1316926 SNPs may be considered for use in individualized patient selection for PRP therapy.

Genetic Variability in VEGFA Gene Influences the Effectiveness of Tennis Elbow Therapy with PRP: A Two-Year Prospective Cohort Study.

Vascular endothelial growth factor (VEGF) is implicated in both the etiology of tendinopathy and its healing process. Polymorphic variants of the VEGFA gene exhibit varied expression, which can influence the phenotype and treatment effectiveness. The aim of the present study was to analyze the influence of VEGFA gene variants on the effectiveness of tennis elbow therapy using platelet-rich plasma (PRP), measured through common patient-reported outcome measures (PROMs). A cohort of 107 patients (132 elbows) with tennis elbow was prospectively analyzed, with a two-year follow-up (at weeks 2, 4, 8, 12, 24, 52, and 104 after PRP injection). PROMs values were compared between variants of five VEGFA gene polymorphisms (rs699947 A>C, rs2010963 C>G, rs1413711 C>T, rs3024998 C>T and rs3025021 C>T) at each follow-up point. Patients with genotypes GG (rs2010963) and CC (rs3024998) had better response to PRP therapy (significantly fewer symptoms and limitations in the upper limb compared to carriers of alleles C and T, respectively). Polymorphisms influenced also selected hematological parameters. VEGFA gene polymorphisms (rs2010963 and rs3024998) appear to be significant treatment modifiers for tendinopathy, and their genotyping may serve as an effective tool for personalized patient selection for PRP therapy.

Hidradenitis suppurativa and squamous cell carcinoma: a systematic review of the literature.

Hidradenitis suppurativa (HS) is a chronic disease which is often recurrent and occurs as abscesses of the apocrine gland. The most common locations of HS are gluteal/perianal, axillary or inguinal. It is reasonable to assume that squamous cell carcinoma may arise from HS. As researchers in the field of dermatology, HS surgery and conventional surgical oncology, we studied whether there is any correlation between HS and neoplasms. Evidence shows a correlation between HS and squamous cell carcinoma. The aim of the study was to find literature about HS and SCC and analyse potential risk factors. This is a systemic review concerning squamous cell carcinoma and hidradenitis suppurativa.

Reconstructive surgical treatment of hidradenitis suppurativa with a 6-month follow-up.

Introduction: Hidradenitis suppurativa (HS) is a chronic skin disease that significantly reduces the quality of life of patients, especially affecting the intimate areas. Surgical treatment is one of the tools available for treating HS, which can significantly improve patients' quality of life. Aim: To evaluate the surgical treatment of 31 patients treated surgically at the Centre for Burns Treatment in Sie-mianowice Slaskie, with a follow-up of 6 months. Material and methods: Thirty-one HS patients were operated on with classical reconstructive methods. The patients were followed up for 6 months in the outpatient clinic. We gathered clinical data of 31 post-operative patients and statistical analysis was performed. Results: 83.87% of the patients were completely healed. The study showed that HS recurrence in the surgical site occurred in 1 (3.23%) patient only after 6 months of follow-up. We found a statistically significant (p < 0.050) positive correlation between patients' age and body mass index (BMI), disease duration and time of diagnosis. BMI value additionally correlated with disease duration and time of diagnosis, while disease duration correlated with time of diagnosis. Conclusions: Surgical treatment is an effective method in HS. The relatively low recurrence rate after 6 months and, in most patients, full healing, support the good therapeutic effect of surgical treatment.

Correlation of Patellofemoral Chondromalacia and Body Mass Index (BMI) in Relation to Sex and Age Analysis of 1.5T and 3.0T Magnetic Resonance (MR) Images Using the Outerbridge Scale.

BACKGROUND Cartilage disease (chondromalacia) is most commonly found in the patellofemoral joint. Non-invasive magnetic resonance imaging methods are used to assess the severity of chondromalacia. The available literature lacks papers describing the predilection of chondromalacia changes to BMI assessed on the basis of geometric data that can be assessed by 1.5T and 3.0T MRI. The aim of this study was to assess the relationship between the severity of chondromalacia of the patellofemoral joint and age, sex, and BMI assessed on the 1.5T and 3.0T MRI scanners. MATERIAL AND METHODS The study involved 324 patients, including 159 (49%) women and 165 (51%) men, aged 8-87 years (mean age: 45.1±20.9). The studied group had a BMI in the range of 14.3-47.3 (M: 27.7±5.02). A 1.5T and 3.0T MRI scanner were used in the study. To assess the cartilage of the patellofemoral joint, Outerbridge scales were used. RESULTS The age of the patients showed a significant correlation (Spearman's rank, P<0.0001) with Outterbridge grade for each surface of patellofemoral joint. Higher correlation between BMI and Outerbridge grade was noted in the patella (rho=0.4139) than in the femur (rho=0.2890). There were no significant differences between women and men in the Outerbridge assessment of the knee joint (P>0.05).  Significant more degeneration was found at the 1.5T scanner compared to the 3.0T MRI (P<0.0025). CONCLUSIONS The severity of chondromalacia significantly depends on age and BMI level. There is a stronger correlation between the degree of chondromalacia and BMI in women than in men.

Relationship between Outerbridge Scale and Chondropathy Femorotibial Joint in Relation to Gender and Age-The Use of 1.5T and 3.0T MRI Scanners.

Background and Objective: Magnetic resonance imaging (MRI) enables the effective evaluation of chondromalacia of the knee joint. Cartilage disease is affected by many factors, including gender, age, and body mass index (BMI). The aim of this study was to check the relationship between the severity of chondromalacia of the femoro-tibial joint and age, gender, and BMI assessed with 1.5T and 3.0T MRI scanners. Materials and Methods: The cross-observational study included 324 patients­159 (49%) females and 165 (51%) males aged 8−87 (45.1 ± 20.9). The BMI of study group was between 14.3 and 47.3 (27.7 ± 5.02). 1.5T and 3.0T MRI scanners were used in the study. The articular cartilage of the knee joint was assessed using the Outerbridge scale. Results: The age of the patients showed a significant correlation with Outerbrige for each compartment of the femorotibial joint (Spearman's rank correlation rho: 0.69−0.74, p < 0.0001). A higher correlation between BMI and Outerbridge was noted in the femur medial (rho = 0.45, p < 0.001) and the tibia medial (rho = 0.43, p < 0.001) than in the femur lateral (rho = 0.29, p < 0.001) and the tibia lateral compartment (rho = 0.34, p < 0.001). Conclusions: The severity of chondromalacia significantly depends on age and BMI level, regardless of gender.

Knee Diameter and Cross-Sectional Area as Biomarkers for Cartilage Knee Degeneration on Magnetic Resonance Images.

Background and Objectives: Osteoarthritis (OA) of the knee is a degenerative disorder characterized by damage to the joint cartilage, pain, swelling, and walking disability. The purpose of this study was to assess whether demographic and radiologic parameters (knee diameters and knee cross-sectional area from magnetic resonance (MR) images) could be used as surrogate biomarkers for the prediction of OA. Materials and Methods: The knee diameters and cross-sectional areas of 481 patients were measured on knee MR images, and the corresponding demographic parameters were extracted from the patients' clinical records. The images were graded based on the modified Outerbridge arthroscopic classification that was used as ground truth. Receiver-operating characteristic (ROC) analysis was performed on the collected data. Results: ROC analysis established that age was the most accurate predictor of severe knee cartilage degeneration (corresponding to Outerbridge grades 3 and 4) with an area under the curve (AUC) of the specificity-sensitivity plot of 0.865 ± 0.02. An age over 41 years was associated with a sensitivity and specificity for severe degeneration of 82.8% (CI: 77.5-87.3%), and 76.4% (CI: 70.4-81.6%), respectively. The second-best degeneration predictor was the normalized knee cross-sectional area, with an AUC of 0.767 ± 0.04), followed by BMI (AUC = 0.739 ± 0.02), and normalized knee maximal diameter (AUC = 0.724 ± 0.05), meaning that knee degeneration increases with increasing knee diameter. Conclusions: Age is the best predictor of knee damage progression in OA and can be used as surrogate marker for knee degeneration. Knee diameters and cross-sectional area also correlate with the extent of cartilage lesions. Though less-accurate predictors of damage progression than age, they have predictive value and are therefore easily available surrogate markers of OA that can be used also by general practitioners and orthopedic surgeons.

Why PRP works only on certain patients with tennis elbow? Is PDGFB gene a key for PRP therapy effectiveness? A prospective cohort study.

BACKGROUND: There is variability in individual response to platelet-rich plasma (PRP) therapy in tennis elbow treatment. Genetic variation, especially within genes encoding growth factors may influence the observed inter-individual differences. The purpose of this study was to identify polymorphic variants of the platelet-derived growth factor beta polypeptide gene (PDGFB) that determine an improved individual response to PRP therapy in tennis elbow patients. METHODS: This prospective cohort study was designed in accordance with STROBE and MIBO guidelines. A cohort of 107 patients (132 elbows, 25 bilateral) was studied, including 65 females (77 elbows) and 42 males (55 elbows), aged 24-64 years (median 46.00 ± 5.50), with lateral elbow tendinopathy treated with autologous PRP injection. The effectiveness of PRP therapy was recorded in all subjects at 2, 4, 8, 12, 24 and 52 weeks after PRP injection using the Visual Analog Scale (VAS), quick version of Disabilities of the Arm, Shoulder and Hand score (QDASH) and Patient-Rated Tennis Elbow Evaluation (PRTEE). In order to determine the PDGFB variants with the best response to PRP therapy, patient reported outcome measures were compared between individual genotypes within studied polymorphic variants (rs2285099, rs2285097, rs2247128, rs5757572, rs1800817 and rs7289325). The influence of single nucleotide polymorphisms on blood and PRP parameters, including the concentration of PDGF-AB and PDGF-BB proteins was also analyzed. RESULTS: Our analysis identified genetic variants of the PDGFB gene that lead to a better response to PRP therapy. The TT (rs2285099) and CC (rs2285097) homozygotes had higher concentration of platelets in whole blood than carriers of other genotypes (p = 0.018) and showed significantly (p < 0.05) lower values of VAS (weeks 2-12), QDASH and PRTEE (weeks 2-24). The rs2285099 and rs2285097 variants formed strong haplotype block (r2 = 98, D'=100). The AA homozygotes (rs2247128) had significantly lower values of VAS (weeks 4-52), QDASH and PRTEE (weeks 8, 12). CONCLUSIONS: PDGFB gene's polymorphisms increase the effectiveness of PRP therapy in tennis elbow treatment. Genotyping two polymorphisms of the PDGFB gene, namely rs2285099 (or rs2285097) and rs2247128 may be a helpful diagnostic tool while assessing patients for PRP therapy and modifying the therapy to improve its effectiveness.

Relationship between CETP gene polymorphisms with coronary artery disease in Polish population.

The cholesteryl ester transfer protein (CETP) gene encodes a hydrophobic glycoprotein that plays a crucial role in the reverse transport of cholesterol. The aim of the present study was to determine whether CETP polymorphisms (rs1532624, rs247616 and rs708272) are associated with coronary artery disease (CAD) in a Polish population. Serum lipid levels and single nucleotide polymorphisms of CETP genes were determined in 494 subjects: 248 patients with premature CAD and 246 blood donors as controls. Selected polymorphisms were examined using TaqMan PCR analysis. We found that CAD risk was significantly higher for CC homozygotes and C allele carriers of the rs247616 polymorphism than for carriers with the T allele (OR 1.89, 95% CI 1.29-2.76, p = 0.001 and OR 1.51, 95% CI 1.14-1.99, p = 0.003) and likewise for the CC genotype of the rs1532624 polymorphism than for those with the A allele (OR 1.59, 95% CI 1.05-2.40, p = 0.026). Moreover, T allele carriers of the rs708272 polymorphism had significantly higher total cholesterol levels compared to CC homozygotes (p < 0.05) in the healthy controls. We also observed an allelic pattern, C(rs2477616)C(rs708272)C(rs1532624), which increased susceptibility to CAD by 43% (OR = 1.43, 95% CI 1.10-1.85, p = 0.006). In conclusion, the rs247616 and rs1532624 polymorphisms of CETP may modulate the risk of CAD in Polish population.

Male gender and age range 20-29 years are the most important non-modifiable risk factors for recurrence after primary post-traumatic shoulder dislocation.

PURPOSE: The aim of the study was to identify and analyze non-modifiable risk factors for recurrence after a first-time post-traumatic dislocation of the shoulder in the entire Polish population. METHODS: The entire Polish population was included in a cohort study. Patients diagnosed with primary post-traumatic dislocation of the shoulder between January 1st, 2010 and December 31st, 2011 were identified and followed up from January 1st, 2010 to December 31st, 2014. Incidence and recurrence rates and odds ratios (OR) were calculated. Demographic data were obtained from Poland's Central Statistical Office. Data on the number of patients with primary post-traumatic shoulder dislocation were drawn from the National Health Fund database. RESULTS: A total of 21,739 patients (14,466 males and 7273 females) with a primary shoulder dislocation in Poland were identified in 2010 and 2011. There were 3341 (15.4%) recurrences. Increased risk of recurrence was associated with male gender (OR = 1.92, 95% CI 1.76-2.09, p < 10-10) in the age range of 20-29 years (OR = 2.59, 95% CI 2.38-2.83, p < 10-10). The highest risk of first-time shoulder dislocation was revealed among females in the age group ≥ 80 years (OR = 24.1, 95% CI 22.6-25.7, p < 10-10). The risk of recurrence in the same group was significantly decreased (OR = 0.41, 95% CI 0.32-0.51, p < 10-10). CONCLUSION: Male gender and age range 20-29 years are highest population risk factors for recurrence after primary shoulder dislocation. Female gender and age ≥ 80 years are highest risk factors for the first-time post-traumatic dislocation of the shoulder joint and protective factors for recurrences after the first-time shoulder dislocation. LEVEL OF EVIDENCE: III.

Five-year prevalence of recurrent shoulder dislocation in the entire Polish population.

PURPOSE: The aim of this study was to evaluate five-year prevalence of recurrent shoulder dislocation in the entire Polish population. METHODS: The study involved the entire Polish population between 01 January 2010 and 31 December 2014. Demographic data were retrieved from the Central Statistical Office of Poland. Data on the number of shoulder joint dislocations were retrieved from the database of the National Health Fund. RESULTS: We identified 32,253 Polish residents with shoulder instability. About 0.1% of Polish residents suffered from recurrent shoulder dislocation. Males suffered almost two times more often than females (66% and 34%, respectively), and male gender was recognized as a risk factor of instability (OR = 2.07, p <10-10). Females in their eighth decade of life had the highest risk of recurrent shoulder dislocation (OR = 3.33, p <10-10). In males the highest risk of recurrences was noted for the third decade of life (OR = 1.78, p <10-10). CONCLUSION: The period prevalence rate of recurrent shoulder dislocation in Poland is 83.7 per 100,000 persons per five years. The rate of recurrent shoulder dislocation for the general Polish population is 0.1%. Males suffered from recurrent shoulder dislocation almost twice as frequently as females (OR = 2.07).

Upstream Stimulating Factor 1 (USF-1) Gene Polymorphisms and the Risk, Symptoms, and Outcome of Pediatric Ischemic Stroke.

BACKGROUND: Pediatric ischemic stroke is an important cause of morbidity and mortality. As previous studies of children after stroke showed, dyslipidemias were very common in Polish and other European populations. Thus, looking for genetic factors predisposing to pediatric stroke, its symptoms, and outcome, we have analyzed 2 polymorphisms of the upstream stimulating factor 1 (USF-1) gene. MATERIALS AND METHODS: The study group consisted of 82 children with stroke, 156 parents, and 146 controls. We used 2 alternative methods: the case-control model and the analysis of families using the transmission disequilibrium test. The 2 polymorphisms, rs2516839 and rs3737787, were genotyped using the TaqMan Pre-Designed SNP Genotyping Assay. The Statistica 10.0 software was used in all statistical analyses. RESULTS: We did not observe any statistical differences in genotype and allele frequencies between patients and controls. There were also no significant differences in the transmission of alleles from the parents to the affected children. However, we have observed that the TT genotype of the rs2516839 polymorphism was more common in patients with epilepsy and dysarthria, whereas the TT genotype of the rs3737787 polymorphism was more frequent in the group of patients with a decrease in intellectual functioning. CONCLUSIONS: Our study did not show any associations between the 2 analyzed polymorphisms of the USF-1 gene and pediatric ischemic stroke. However, we have observed an influence of specific genotypes on the outcome of stroke, including epilepsy, dysarthria, and a decrease in intellectual functioning.

The rs10757278 Polymorphism of the 9p21.3 Locus in Children with Arterial Ischemic Stroke: A Family-Based and Case-Control Study.

BACKGROUND: The association of 9p21.3 locus single nucleotide polymorphisms with arterial ischemic stroke in adults was demonstrated in many studies, but there are no studies in pediatric arterial ischemic stroke patients. We investigated whether the 9p21.3 locus polymorphism, namely rs10757278, is associated with the arterial ischemic stroke risk in children. METHODS: The study group consisted of 335 individuals: 80 children with arterial ischemic stroke, their biological parents (n = 122), and 133 children (age and sex matched) without any symptoms of arterial ischemic stroke as a control group. The rs10757278 polymorphism was genotyped using the TaqMan® Pre-designed SNP Genotyping Assay (Applied Biosystems). Two different study design models were used: family-based association test (transmission-disequilibrium test) and case-control model. RESULTS: There were no statistically significant differences in the distribution of genotypes and alleles of the rs10757278 polymorphism between groups of children with arterial ischemic stroke and controls. The frequency of both transmitted alleles in transmission-disequilibrium test analysis was identical (50%). The A allele carrier state (AA+AG genotype) was more frequent in arterial ischemic stroke children with hemiparesis than in patients without this symptom (94.5% versus 68.0%, P = .004). CONCLUSIONS: There is no evidence to consider the 9p21.3 locus polymorphism as a risk factor for childhood arterial ischemic stroke.

Methylenetetrahydrofolate reductase gene A1298C polymorphism in pediatric stroke--case-control and family-based study.

Moderate hyperhomocysteinemia is one of the risk factors of pediatric stroke. Methylenetetrahydrofolate reductase (MTHFR) is an important enzyme, which regulates homocysteine metabolism, and some polymorphisms of gene encoding this enzyme are associated with a decreased activity of the enzyme. The aim of the study was to assess an association between the A1298C polymorphism and pediatric stroke. We also evaluated a possible synergistic effect of A1298C and C677T polymorphisms of this gene. The study group consisted of 88 children after ischemic stroke, 142 of their parents and 111 controls. The A1298C polymorphism was genotyped using the restriction fragment length polymorphism method. We used 2 study designs: a case-control model and a family-based association test. The Statistica 7.1 and EpiInfo 6 softwares were used in all analyses. We did not observe any statistically significant differences either in the transmission of the A allele in the family-based test or in the frequency of the A allele in the patients group compared with the controls. We also did not notice any significant additive or synergistic effects between the A1298C and C677T polymorphisms. An analysis of the results obtained in this study and a critical review of previously published studies indicate that the A1298C polymorphism of the MTHFR gene is not related to ischemic stroke in children.

The rs2516839 Polymorphism of the USF1 Gene May Modulate Serum Triglyceride Levels in Response to Cigarette Smoking.

Single nucleotide polymorphisms (SNPs) of the USF1 gene (upstream stimulatory factor 1) influence plasma lipid levels. This study aims to determine whether USF1 SNPs interact with traditional risk factors of atherosclerosis to increase coronary artery disease (CAD) risk. In the present study serum lipid levels and USF1 gene polymorphisms (rs2516839 and rs3737787) were determined in 470 subjects: 235 patients with premature CAD and 235 controls. A trend of increasing triglycerides (TG) levels in relation to the C allele dose of rs2516839 SNP was observed. The synergistic effect of cigarette smoking and C allele carrier state on CAD risk was also found (SIM = 2.69, p = 0.015). TG levels differentiated significantly particular genotypes in smokers (1.53 mmol/L for TT, 1.80 mmol/L for CT and 2.27 mmol/L for CC subjects). In contrast, these differences were not observed in the non-smokers subgroup (1.57 mmol/L for TT, 1.46 mmol/L for CT and 1.49 mmol/L for CC subjects). In conclusion, the rs2516839 polymorphism may modulate serum triglyceride levels in response to cigarette smoking. Carriers of the C allele seem to be particularly at risk of CAD, when exposed to cigarette smoking.

The -930A>G polymorphism of the CYBA gene is associated with premature coronary artery disease. A case-control study and gene-risk factors interactions.

Reactive oxygen species (ROS) are involved in the pathogenesis of atherosclerosis and coronary artery disease (CAD). NADPH oxidases are the main source of ROS in the vasculature. p22phox is a critical component of vascular NADPH oxidases and is encoded by the CYBA (cytochrome b245 alpha) gene. The -930A>G CYBA polymorphism (rs9932581:A>G) modulates the activity of the CYBA promoter, and influences CYBA transcriptional activity. The aim of the present study was to analyze a possible association between the -930A>G polymorphism and CAD and to search for gene-traditional risk factors interactions. 480 subjects were studied: 240 patients with premature CAD, 240 age and sex matched blood donors. The -930A>G polymorphism was genotyped using the TaqMan® Pre-designed SNP Genotyping Assay (Applied Biosystems). The -930G allele carrier state was a risk factor for CAD (OR 2.03, 95% CI 1.21-3.44, P=0.007). A synergistic effect of the -930G allele with overweight/obesity (BMI≥25) and cigarette smoking was found. The estimated CAD risk for BMI≥25 and the -930G allele interaction was about 160% greater than that predicted by assuming additivity of the effects, and about 40% greater for interaction of cigarette smoking and the -930G allele. Overweight/obesity was a risk factor for CAD only in the -930G allele carriers (P<10(-10)) but not in the AA homozygotes (P=1.00). In conclusion the -930A>G CYBA polymorphism is associated with CAD in the Polish population. The -930G allele carriers are particularly at risk of consequences of obesity and tobacco smoke exposure.

Associations between the VDR Gene rs731236 (TaqI) Polymorphism and Bone Mineral Density in Postmenopausal Women from the RAC-OST-POL.

BACKGROUND: Postmenopausal osteoporosis is not only related to hormonal factors but is also associated with environmental and genetic factors. One of the latter is the polymorphism of vitamin D receptor (VDR). The aim of the reported study was to comprehensively analyze the VDR gene polymorphic variants rs731236 (TaqI), rs1544410 (BsmI) and rs7975232 (ApaI) in the Polish population of postmenopausal women. METHODS: The study group consisted of 611 women after menopause (their median age was 65.82 ± 6.29 years). Each of them underwent bone densitometry (DXA) of the non-dominant femoral neck and total hip with a biochemical analysis of vitamin D3 serum concentration and genotyping of the above-mentioned single nucleotide polymorphisms (SNPs); the obtained results were analyzed in the aspect of waist circumference (WC), body mass index (BMI) and past medical history. RESULTS: The genotype prevalence rates of all SNPs were compatible with Hardy-Weinberg equilibrium (p > 0.050). Out of the studied polymorphisms, only rs731236 genotype variants affected DXA, with AG heterozygotes showing the worst bone parameters. Neither patient age nor vitamin D3 concentration, BMI, WC or comorbidities was associated with rs731236 genotype. CONCLUSIONS: Out of the polymorphisms studied, only rs731236 genotypes differed among the DXA results, while the AG heterozygotes were characterized by the lowest median bone mineral density.

Winged Threat on the Offensive: A Literature Review Due to the First Identification of Aedes japonicus in Poland.

Genetic studies preceded by the observation of an unknown mosquito species in Mikolów (Poland) confirmed that it belongs to a new invasive species in Polish fauna, Aedes japonicus (Theobald, 1901), a known vector for numerous infectious diseases. Ae. japonicus is expanding its geographical presence, raising concerns about potential disease transmission given its vector competence for chikungunya virus, dengue virus, West Nile virus, and Zika virus. This first genetically confirmed identification of Ae. japonicus in Poland initiates a comprehensive review of the literature on Ae. japonicus, its biology and ecology, and the viral infections transmitted by this species. This paper also presents the circumstances of the observation of Ae. japonicus in Poland and a methodology for identifying this species.

[The p22phox protein and the CYBA gene. Their function and associations with atherosclerosis-related diseases]. / Bialko p22phox oraz gen CYBA. Ich funkcja i zwiazki z chorobami o podlozu miazdzycowym.

The significant amounts of reactive oxygen species (ROS), mainly superoxide anion (O2*-), are produced each day in the human body. ROS play many important and beneficial functions, but they can also contribute to the development of many diseases, including those with atherosclerotic background. Vascular and phagocytic NADPH oxidases are a multicomponent enzymatic complexes which are the main source of O2*- in the vasculature. The p22phox subunit plays an important role in the functioning of these enzymes and is encoded by the CYBA gene (cytochrome b-alpha). In recent years, it was shown the presence of multiple genetic polymorphisms in the CYBA gene, including variants: -930A>G, -852C>G, -675A>T, -536C>T, *24A>G, 521C>T and 214C>T. The functional and association studies were conducted in many research centers from around the world, as a result of these findings. The aim of the present study was to summarize of the available information on the CYBA gene, function of its polymorphisms and their associations with atherosclerosis-related diseases.