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1.
Int J Mol Sci ; 25(8)2024 Apr 12.
Artigo em Inglês | MEDLINE | ID: mdl-38673853

RESUMO

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.


Assuntos
Plasma Rico em Plaquetas , Polimorfismo de Nucleotídeo Único , Receptor alfa de Fator de Crescimento Derivado de Plaquetas , Tendinopatia , Humanos , Feminino , Masculino , Pessoa de Meia-Idade , Adulto , Receptor alfa de Fator de Crescimento Derivado de Plaquetas/genética , Estudos Prospectivos , Tendinopatia/genética , Tendinopatia/terapia , Genótipo , Resultado do Tratamento , Alelos , Cotovelo de Tenista/terapia , Cotovelo de Tenista/genética
2.
Int J Mol Sci ; 25(4)2024 Feb 14.
Artigo em Inglês | MEDLINE | ID: mdl-38396951

RESUMO

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.


Assuntos
Proteína ADAMTS7 , Doença da Artéria Coronariana , Humanos , Proteína ADAMTS7/genética , Estudos de Casos e Controles , Doença da Artéria Coronariana/epidemiologia , Doença da Artéria Coronariana/genética , Frequência do Gene , Predisposição Genética para Doença , Genótipo , Polônia/epidemiologia , Polimorfismo de Nucleotídeo Único , Estudos Prospectivos , Fatores de Risco
3.
Int J Mol Sci ; 24(24)2023 Dec 09.
Artigo em Inglês | MEDLINE | ID: mdl-38139123

RESUMO

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.


Assuntos
Plasma Rico em Plaquetas , Cotovelo de Tenista , Humanos , Fator A de Crescimento do Endotélio Vascular/genética , Cotovelo de Tenista/genética , Cotovelo de Tenista/terapia , Estudos Prospectivos , Polimorfismo Genético , Polimorfismo de Nucleotídeo Único
4.
Genes (Basel) ; 13(11)2022 11 18.
Artigo em Inglês | MEDLINE | ID: mdl-36421822

RESUMO

Genetic factors can influence the risk of coronary artery disease (CAD) and the survival of patients. Our previous research led to the identification of genetic variants predisposing to CAD in the Polish population. Since many of them affect the clinical phenotype of the disease, the aim of this study was searching for genetic factors potentially influencing survival in patients with CAD. The study included 276 patients hospitalized due to coronary artery disease. The database of medical history and genotypic results of 29 polymorphisms were used. The endpoint was defined as death from cardiovascular causes. Survival was defined as the period from angiographic confirmation of CAD to death from cardiovascular causes. Three of all the analyzed genes were associated with survival. In the case of the AGT (rs699) and ABCA1 (rs2230806) genes polymorphisms, the risk of death was higher in GG homozygotes compared to the A allele carriers in the 10-year period. In the case of the CYBA (rs72811418) gene polymorphism, the effect on mortality was shown in both 5- and 10-year periods. The TA heterozygotes were predisposed to a higher risk of death than the TT homozygotes. Concluding, the AGT, ABCA1, and CYBA genes polymorphisms influence the risk of death in patients with CAD.


Assuntos
Transportador 1 de Cassete de Ligação de ATP , Angiotensinogênio , Doença da Artéria Coronariana , NADPH Oxidases , Humanos , Alelos , Transportador 1 de Cassete de Ligação de ATP/genética , Doença da Artéria Coronariana/genética , Suscetibilidade a Doenças , Genótipo , NADPH Oxidases/genética , NADPH Oxidases/metabolismo , Polimorfismo Genético , Estudos Prospectivos , Angiotensinogênio/genética
5.
J Clin Med ; 11(21)2022 Oct 28.
Artigo em Inglês | MEDLINE | ID: mdl-36362590

RESUMO

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.

6.
J Clin Med ; 11(15)2022 Aug 03.
Artigo em Inglês | MEDLINE | ID: mdl-35956147

RESUMO

Background: The present study aimed to determine whether the polymorphisms of the 11q23.3 locus affect the risk and mortality of coronary artery disease in 5-year and 10-year observations. Methods: The study group consisted of 519 subjects: 276 patients with CAD and 243 blood donors as controls. The genotyping of polymorphisms (rs10750097, rs3741298, and rs1729410) was performed using the TaqMan-PCR method. Survival was defined as the period from the angiographic confirmation of CAD to cardiovascular death, and the endpoint was defined as death from cardiovascular causes. Results: The G allele of the rs1729410 polymorphism increased the risk of CAD (OR = 1.55, p = 0.04) and showed a synergistic correlation with overweight/obesity (additive synergy index (SI) = 11.01, p < 0.001). The carriers of the GG genotype and over-normative LDL levels increased the risk of CAD by over 12-fold higher than expected (multiplicative synergy index (SIM) = 12.34, p < 0.001). In the case of the rs10750097 variant, an effect on mortality was shown in both 5-year and 10-year periods. Conclusion: The results revealed that the rs1729410 polymorphism increases the risk of CAD in synergy with traditional risk factors, and the rs10750097 polymorphism of the 11q23.3 locus affects the risk of death in patients with CAD.

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