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.

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.

Background: This study aims to identify genotype variants of the platelet-derived growth factor alpha polypeptide gene (PDGFA) that can influence the individual response to the treatment with platelet-rich plasma (PRP) in tennis elbow patients. Methods: We observed a cohort of 107 patients (132 elbows) with tennis elbow who received treatment with PRP. Patients have been followed-up for two years after PRP injection and the effectiveness of the treatment was measured using universal patient-reported outcome measures (PROMs): visual analog scale (VAS), quick version of disabilities of the arm, shoulder and hand score (QDASH), and patient-rated tennis elbow evaluation (PRTEE). PROMs values, and clinical and platelet parameters were compared between genotype variants of the studied polymorphisms (rs1800814, rs2070958 and rs62433334). Results: The A allele carriers (rs1800814) had significantly lower values of VAS (week 12), QDASH, and PRTEE (weeks 8, 12). The T allele carriers (rs2070958) had significantly lower values of VAS (weeks 8, 12), QDASH, and PRTEE (weeks 4–12). Additional forms of therapy (manual and physical) were necessary significantly more often in GG (rs1800814) and CC (rs2070958) homozygotes. Conclusions: The PDGFA gene’s polymorphisms influences the effectiveness of PRP therapy in tennis elbow treatment. The effectiveness of PRP is greater in A allele (rs1800814) and T allele (rs2070958) carriers.

Paraoxonase-1 (PON1) is the antioxidant marker of high-density lipoproteins protecting against atherosclerosis and coronary artery disease (CAD) phenotype. The purpose of the present study was to determine whether the PON1 gene rs854560 polymorphism (163T>A) is associated with CAD in Polish population. rs854560 was genotyped in 494 subjects: 248 patients with premature CAD and 246 blood donors as a control. We found that the risk of CAD was significantly higher in TT homozygotes than in A allele carriers (OR = 1.87, p = 0.041). The synergistic effect between the TT genotype and cigarette smoking was observed (SIM = 9.81; SI = 14.70). The relative increase in risk from interaction between factors was over 37 (RERI = 36.13). The PON1 polymorphism did not modulate the risk of CAD in response to exposure to other traditional risk factors. In conclusion, the rs854560 polymorphism may modulate the risk of CAD in response to cigarette smoking in Polish population. Carriers of TT genotype seem to be particularly at risk of CAD, when exposed to cigarette smoking.

Background: Differences in response to PRP (platelet-rich plasma) therapy may be linked to the variability of growth factors and their receptor’s genes. Considering that, we checked whether the platelet-derived growth factor receptor beta gene (PDGFRB) single nucleotide polymorphisms (SNPs) affect the effectiveness of PRP therapy in treating tennis elbow patients. Methods: The treatment efficacy was analyzed over time (2, 4, 8, 12, 24, 52, and 104 weeks after PRP injection) on 107 patients (132 elbows) using PROMs (patient-reported outcome measures), namely VAS (Visual Analog Scale), QDASH (quick version of Disabilities of the Arm, Shoulder, and Hand) and PRTEE (Patient-Rated Tennis Elbow Evaluation). Five polymorphisms of the PDGFRB gene (rs4324662, rs758588, rs3828610, rs3756311, and rs3756312) were genotyped. Results: The CC (rs3828610) and GG (rs3756311 and rs3756312) genotypes had a particularly strong impact on the effectiveness of the therapy, as measured by the values of PROMs, both in additive as well as dominant/recessive models. These homozygotes were also characterized by significantly higher values of MPV (mean platelet volume). Conclusions: The PDGFRB gene SNPs affect the effectiveness of PRP therapy in treating tennis elbow patients and it may result from the differentiated metabolic activity of platelets in particular genotype variants.