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BACKGROUND: Multiple myeloma is one of the most common hematological malignancies worldwide. Genetic alterations may lead to the progression from monoclonal gammopathy to multiple myeloma. Additionally, the genetic background of the disease might influence therapy outcomes, including survival time. SLCO1B1, belonging to the OATPs family, is a membrane protein that mediates the uptake of a wide range of endogenous and exogenous (including drugs) compounds. METHODS AND RESULTS: In this study, the A388G single nucleotide polymorphism in the SLCO1B1 gene in Polish multiple myeloma patients was determined. This polymorphism affects the amino acid change of the protein, so it may be responsible for treatment effectiveness or risk of disease development. A388G was evaluated by the PCR-RFLP method. The presented study showed a statistically significant association between the GG genotype with longer survival of patients with multiple myeloma with Melphalan-Prednisone therapy compared to other treatment regimens (p = 0.0271). There was no statistically significant association in the frequency of genotypes (p = 0.8211) and alleles: allele A (p = 0.5442); allele G (p = 0.8020) between multiple myeloma patients and a control group. CONCLUSIONS: The A388G polymorphism does not seem to affect the increased risk of the development of multiple myeloma. However, the occurrence of the GG genotype may prolong of patients overall survival in the case of Melphalan-Prednisone therapy.
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Mieloma Múltiple , Humanos , Mieloma Múltiple/tratamiento farmacológico , Mieloma Múltiple/genética , Polimorfismo de Nucleótido Simple/genética , Melfalán/uso terapéutico , Polonia/epidemiología , Prednisona/uso terapéutico , Genotipo , Transportador 1 de Anión Orgánico Específico del Hígado/genéticaRESUMEN
The genetic factors of adult acute lymphoblastic leukemia (ALL) development are only partially understood. The Runt-Related Transcription Factor (RUNX) gene family play a crucial role in hematological malignancies, serving both a tumor suppressor and promoter function. The aim of this study was the assessment of relative RUNX1 and RUNX3 genes expression level among adult ALL cases and a geographically and ethnically matched control group. The relative RUNX1 and RUNX3 genes expression level was assessed by qPCR. The investigated group comprised 60 adult patients newly diagnosed with ALL. The obtained results were compared with a group of 40 healthy individuals, as well as clinical and hematological parameters of patients, and submitted for statistical analysis. ALL patients tend to have significantly higher RUNX1 gene expression level compared with controls. This observation is also true for risk group stratification where high-risk (HR) patients presented higher levels of RUNX1. A higher RUNX1 transcript level correlates with greater leukocytosis while RUNX3 expression is reduced in Philadelphia chromosome bearers. The conducted study sustains the hypothesis that both a reduction and increase in the transcript level of RUNX family genes may be involved in leukemia pathogenesis, although their interaction is complex. In this context, overexpression of the RUNX1 gene in adult ALL cases in particular seems interesting. Obtained results should be interpreted with caution. Further analysis in this research field is needed.
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BACKGROUND: The RAS family protooncogenes, including KRAS, NRAS and HRAS, encode proteins responsible for the regulation of growth, differentiation and survival of many cell types. The HRAS and KRAS oncogene mutations are well defined, however, the clinical significance of RAS expressions in non-small-cell lung cancer (NSCLC) is still uncertain. METHODS: A total of 39 whole blood samples of NSCLC (the investigated group), collected at three points of time: at the time of diagnosis, 100 days and 1 year after the surgery as well as 35 tissue samples obtained during the surgery were included in this study. HRAS and KRAS genes mRNA expression were assessed using quantitative real-time polymerase chain reaction techniques. RESULTS: Increased relative HRAS mRNA level in blood was found significantly more frequently in the group of smokers (p = 0.008). Patients with squamous cell carcinoma subtypes of NSCLC were more likely to show an overexpression of HRAS gene in blood, but not statistically significant (p = 0.065). In tumor tissue overexpression of HRAS gene was associated with adenocarcinoma subtype (p = 0.049). No statistically significant associations were found for the expression of KRAS with any clinicopathological parameters, except the age of patients, within the study. There were no differences between the relative HRAS and KRAS genes expression levels in blood samples taken from the same patients during the 3 observation points, as well as between blood collected from patients before surgery and tissue samples obtained during operation. CONCLUSION: The potential associations between high HRAS expression levels, age, smoking status and histological type of cancer were observed, which emphasizes the need for further study of the RAS family. Therefore, subsequent research involving larger numbers of patients and a longer follow-up, as well as multicenter study are necessary to confirm our findings.
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Carcinoma de Pulmón de Células no Pequeñas/genética , Carcinoma de Células Escamosas/genética , Expresión Génica , Genes ras , Neoplasias Pulmonares/genética , ARN Mensajero/sangre , Factores de Edad , Anciano , Anciano de 80 o más Años , Carcinoma de Pulmón de Células no Pequeñas/sangre , Carcinoma de Pulmón de Células no Pequeñas/patología , Carcinoma de Células Escamosas/sangre , Carcinoma de Células Escamosas/patología , Femenino , Humanos , Neoplasias Pulmonares/sangre , Neoplasias Pulmonares/patología , Masculino , Persona de Mediana Edad , Proteínas Proto-Oncogénicas p21(ras)/sangre , Estudios Retrospectivos , Fumar/sangre , Factores de TiempoRESUMEN
We report on a 2.051 µm InxGaAs/InP-based discrete mode laser diode monolithically integrated with a curved tapered semiconductor optical amplifier for CO2 sensing applications. At a heat-sink temperature of 0°C, the laser emits a record InP value of more than 35 mW continuous-wave output power in a single longitudinal mode.
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We present an improved design of a wavelength-tunable single-mode laser array based on a high order surface grating with non-uniformly spaced slots. The laser array consists of 12 slotted single-mode lasers. The fabricated device exhibits a quasi-continuous tuning range of more than 36 nm over the temperature range from 10°C - 45°C covering the full C-band. All lasers in the array have stable single-mode operation with side mode suppression ratio of 50 dB due to the modified slot design. A spectral linewidth of less than 500 kHz was obtained for all channels in the array.
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Gout has recently become the most common arthritis in developed countries. However studies indicate that treatment of gout is still insufficient. New discoveries including the role of inflammasome, inflammatory cytokines ( Il1ß, IL-8,TNF-α), but also identification of the URAT -1 transporter or genetic mutation of SLC2A9 has given better understanding of the pathophysiology of gout and enable to use new therapies. New options in treatment significantly reduced the number of patients resistant to existing procedures, and created opportunities for a better individualization of the treatment. In this authors article in a practical way try to summary knowledge about the pathogenesis of the disease and the current guidelines for the diagnosis, the treatment of non-pharmacological and pharmacological treatment.
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Gota/metabolismo , Gota/terapia , Citocinas/metabolismo , Proteínas Facilitadoras del Transporte de la Glucosa/genética , Gota/diagnóstico , Gota/genética , Humanos , Mutación , Transportadores de Anión Orgánico/genética , Proteínas de Transporte de Catión Orgánico/genéticaRESUMEN
A six section widely tunable laser based on slots etched into the waveguide is presented. This laser is re-growth free which makes it suitable for photonics integration. To improve the laser performance, the front and the back facets are anti- reflection (AR) coated and the laser is integrated with a semiconductor optical amplifier. A tuning range of 55nm covering 12 supermodes with side mode suppression ratio (SMSR) >30dB is reported for the fabricated device using the Vernier tuning effect. This laser platform requires very simple fabrication compared with more complex superstructure gratings.
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A 9-channel wavelength tunable single-mode laser array based on slots is presented. The fabricated laser array demonstrated a threshold current in a range of 19~21 mA with the SOA unbiased at 20°C under continuous wave condition. Stable single mode performances have been observed with side-mode suppression-ratio (SMSR) > 50 dB. The output power higher than 37 mW was obtained at the SOA injected current of 70 mA for all the 9 channels within the laser array. A wavelength quasi-continuous tuning range of about 27 nm has been achieved for the laser array with the temperature variations from 10°C to 45°C. This array platform is of a single growth and monolithically integrable. It can be easily fabricated by standard photolithography. In addition, it potentially removes the yield problem due to the uncertainty of the facet cleaving.
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Rayos Láser , Refractometría/instrumentación , Resonancia por Plasmón de Superficie/instrumentación , Diseño de Equipo , Análisis de Falla de EquipoRESUMEN
Gliomas are the most common malignant brain tumours. Among them, glioblastoma (GBM) is a grade four tumour with a median survival of approximately 15 months and still limited treatment options. Although a classical epithelial to mesenchymal transition (EMT) is not the case in glioma due to its non-epithelial origin, the EMT-like processes may contribute largely to the aggressive and highly infiltrative nature of these tumours, thus promoting invasive phenotype and intracranial metastasis. To date, many well-known EMT transcription factors (EMT-TFs) have been described with clear, biological functions in glioma progression. Among them, EMT-related families of molecules such as SNAI, TWIST and ZEB are widely cited, well-established oncogenes considering both epithelial and non-epithelial tumours. In this review, we aimed to summarise the current knowledge with a regard to functional experiments considering the impact of miRNA and lncRNA as well as other epigenetic modifications, with a main focus on ZEB1 and ZEB2 in gliomas. Although we explored various molecular interactions and pathophysiological processes, such as cancer stem cell phenotype, hypoxia-induced EMT, tumour microenvironment and TMZ-resistant tumour cells, there is still a pressing need to elucidate the molecular mechanisms by which EMT-TFs are regulated in gliomas, which will enable researchers to uncover novel therapeutic targets as well as improve patients' diagnosis and prognostication.
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P-glycoprotein, product of the ABCB1 (ATP binding cassette subfamily B member 1) gene, has been reported to play an important role in multiple drug resistance during cancer therapy. However, its influence on non-small cell lung cancer (NSCLC) risk has not been clearly defined. The aim of the present study was to examine the association between clinicopathological factors and SNPs T-129C, C1236T, G2677T/A, and C3435T, as well as its haplotype, and to investigate the role of ABCB1 polymorphisms in NSCLC development. The study included 80 patients who suffered from NSCLC and underwent surgery to remove the tumour and 96 healthy controls. The tissues were genotyped by PCR-RFLP and sequencing methods, and the haplotype frequencies in both groups were estimated. The SNP C3435T was identified as a NSCLC risk factor. The presence of mutated allelic variant T (p=0.0103) or homozygote TT (p=0.0099) was observed significantly more often in cancer patients than in healthy controls. The two groups also demonstrated a highly significant difference in common haplotype frequency (p=0.01). The T-129-T1236-T2677-T3435 haplotype was found to be most closely associated with NSCLC risk. Although the investigated polymorphisms were not related to demographic features, clinicopathological lung tumour characteristics, or blood morphology indices, marginally significant correlations were found with some variables: C1236T with age of disease onset (p=0.0410); C3435T with smoking status (p=0.0561). As the findings indicate, lung cancer and control groups demonstrate significantly different patterns of -129/1236/2677/3435 haplotype distribution; T-T-T-T haplotype contributes to NSCLC susceptibility, and this effect is probably mainly dependent on C3435T. So far, similar studies were published in other populations.
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The expression level of mRNA and also the function of P-gp are strictly connected with the polymorphic nature of the ABCB1 gene. In this study, we evaluated the association between promoter SNP, i.e. T-129C, three other SNPs investigated earlier and ABCB1 expression in the depression group. To assess the additive significance of these SNPs on clinicopathological features a mathematical model was also built. 102 patients suffering from recurrent depressive disorder (rDD) and 94 healthy individuals from a local blood bank were enrolled in this study. ABCB1 gene polymorphism was identified by the RFLP method. The relative level of ABCB1 expression was measured by real-time PCR. For SNP T-129C no statistically significant differences in allele and genotype frequencies between depression and control groups were found (p = 0.3176). There was no statistically significant association between the expression value and 4 studied SNPs in ABCB1 (T-129C, C1236T, G2677T/A and C3435T) or the investigated clinicopathological features. Furthermore, a correlation between the initial HDRS score (lower than 23) and presence of at least 1236 T allele was observed, in particular in combination with 3435 T or 2677 T/A. Mutated allele of each SNP was also significantly associated with declined response to antidepressant therapy, both individually and in combination with others. Results of this study suggest that T-129C does not play an important role in the rDD development. The influence of the studied SNPs on ABCB1 gene expression is still unknown. However, the additive impact of 3 most frequently studied SNPs of ABCB1 on the course of depression and effectiveness of its treatment was confirmed.
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Trastorno Depresivo , Polimorfismo de Nucleótido Simple , Humanos , Depresión , Frecuencia de los Genes , Genotipo , Subfamilia B de Transportador de Casetes de Unión a ATP/genéticaRESUMEN
Members of the activator protein 2 (AP-2) transcription factor (TF) family are known to play a role in both physiological processes and cancer development. The family comprises five DNA-binding proteins encoded by the TFAP2A to TFAP2E genes. Numerous scientific reports describe differential expression of these TF and their genes in various types of cancer, identifying among them a potential oncogene or suppressor like TFAP2A or TFAP2C. Other reports suggest their influence on disease development and progression, as well as response to treatment. Not all members of this AP-2 family have been comprehensively studied thus far. The aim of the present article is to gather and discuss knowledge available in bioinformatics databases regarding all five members of this family and to differentiate them in relation to the two most common lung cancer subtypes: adenocarcinoma (LUAD) and squamous cell carcinoma (LUSC). In addition, to assess the difference in levels depending on a number of clinicopathological factors, the impact on patient survival and interactions with tumor-infiltrating immune cells. This article may help to identify the target for further original research that may contribute to the discovery of new diagnostic biomarkers and define the molecular differences between LUAD and LUSC, which may affect the therapy effectiveness improvement and longer survival.
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Adenocarcinoma del Pulmón , Carcinoma de Pulmón de Células no Pequeñas , Carcinoma de Células Escamosas , Neoplasias Pulmonares , Humanos , Factores de Transcripción , Adenocarcinoma del Pulmón/genética , Carcinoma de Pulmón de Células no Pequeñas/patología , Neoplasias Pulmonares/patología , Carcinoma de Células Escamosas/patología , Pulmón/patología , Biología ComputacionalRESUMEN
The analysis concerned the comparison of the expression of membrane type matrix metalloproteinases genes in the blood and tissue of NSCLC patients during the course of the disease and comparison to the control group. Blood and neoplastic tissue taken from 45 patients diagnosed with non-small cell lung cancer was a research material. The expression level of MMP14, MMP15, MMP16 and MMP24 was evaluated by qPCR and the results were compared with controls. The expression of MMP14 and MMP24 before tumor removal surgery and 100 days after was lower than in the control group. Interestingly, one year after surgery the levels of expression of these genes were identical to those in the control group. This suggests that the expression of metalloproteinase genes changes in the course of cancer and that effective treatment results in the normalization of gene expression. Lower expression of MMP15 in the blood of patients with more advanced cancer disease was observed, confirming the suppressive nature of changes in the blood. It has also been demonstrated that higher expression of MMP14 and MMP15 in the tissue is associated with more advanced stage of disease development or more invasive nature of the lesion. There is a noticeable increase of expression level in the environment surrounding the tumor, while a lower can be observed in the blood. This may indicate that changes in the expression of metalloproteinases in cancer are much more complex than merely the tumor tissue, which may also account for the inadequacies of metalloproteinase inhibitors.
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Carcinoma de Pulmón de Células no Pequeñas/genética , Neoplasias Pulmonares/genética , Metaloproteinasa 14 de la Matriz/sangre , Metaloproteinasa 15 de la Matriz/sangre , Metaloproteinasa 16 de la Matriz/sangre , Metaloproteinasas de la Matriz Asociadas a la Membrana/sangre , Carcinoma de Pulmón de Células no Pequeñas/sangre , Carcinoma de Pulmón de Células no Pequeñas/mortalidad , Estudios de Casos y Controles , Femenino , Regulación de la Expresión Génica , Humanos , Estimación de Kaplan-Meier , Neoplasias Pulmonares/sangre , MasculinoRESUMEN
The re-growth free single mode lasers based on etched slots suitable for photonic integration are presented in this paper. The fabricated 650 µm long laser exhibits a threshold current and a slope efficiency of about 32 mA and 0.12 mW/mA, respectively. The stable single mode operation has been observed with a side mode suppression ratio (SMSR) over 50 dB at a current injection of 100 mA for the fabricated laser. Such a laser integrated with electroabsorption (EA) modulator is also demonstrated. The integrated device has an extinction ratio over 10 dB at 2.2V driving voltage with the lasing wavelength of around 20 nm positive detuning relative to the gain peak. The bandwidth measured is about 3 GHz for the integrated device.
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Immune system dysregulation plays a role in the pathogenesis of complex human diseases, including psychiatric disorders. In addition, elevated levels of pro-inflammatory cytokines, including tumor necrosis factor α (TNF-α) may be conditioned by the presence of specific polymorphic variants. The present case-controlled preliminary study evaluated the prevalence of TNFA gene single nucleotide polymorphisms (SNPs) G-308A (rs1800629) and T-1031C (rs1799964) in 83 Polish patients with depression by restriction fragment length polymorphism analysis. The results were compared with the frequencies of genotypes in a geographically- and ethnically-matched group of individuals without depression. No statistically significant difference in genotype/allele frequency was observed for either SNP between the two groups. No association was found between the particular genotypes and selected demographic/clinical features, including sex, age at diagnosis or severity of depressive symptoms before/after pharmacotherapy. Thus, there does not appear to be any connection between the studied SNPs and the development and progression of depression; however, further studies are required with larger cohorts to better understand this aspect of depression.
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CEBPA and c-MYC genes belong to TF and play an essential role in hematologic malignancies development. Furthermore, these genes also co-regulate with RUNX1 and lead to bone marrow differentiation and may contribute to the leukemic transformation. Understanding the function and full characteristics of selected genes in the group of patients with AML can be helpful in assessing prognosis, and their usefulness as prognostic factors can be revealed. The aim of the study was to evaluate CEBPA and c-MYC mRNA expression level and to seek their association with demographical and clinical features of AML patients such as: age, gender, FAB classification, mortality or leukemia cell karyotype. Obtained results were also correlated with the expression level of the RUNX gene family. To assess of relative gene expression level the qPCR method was used. The expression levels of CEBPA and c-MYC gene varied among patients. Neither CEBPA nor c-MYC expression levels differed significantly between women and men (p=0.8325 and p=0.1698, respectively). No statistically significant correlation between age at the time of diagnosis and expression of CEBPA (p=0.4314) or c-MYC (p=0.9524) was stated. There were no significant associations between relative CEBPA (p=0.4247) or c-MYC (p=0.4655) expression level and FAB subtype and mortality among the enrolled patients (p=0.5858 and p=0.8437, respectively). However, it was observed that c-MYC and RUNX1 expression levels were significantly positively correlated (rS=0.328, p=0.0411). Overall, AML pathogenesis involves a complex interaction among CEBPA, c-MYC and RUNX family genes.
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Proteínas Potenciadoras de Unión a CCAAT/genética , Leucemia Mieloide Aguda/etiología , Proteínas Proto-Oncogénicas c-myc/genética , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Proteínas Potenciadoras de Unión a CCAAT/fisiología , Subunidad alfa 2 del Factor de Unión al Sitio Principal/genética , Femenino , Humanos , Leucemia Mieloide Aguda/genética , Leucemia Mieloide Aguda/mortalidad , Masculino , Persona de Mediana Edad , Proteínas Proto-Oncogénicas c-myc/fisiología , ARN Mensajero/análisis , Adulto JovenRESUMEN
The ABCB1 gene belongs to ATP binding cassette (ABC) transporter genes that has been previously implicated in cancer progression and drug response. This study aimed to evaluate the association between the SNP 3435 and the expression of the ABCB1 gene in lung cancer patients in the Polish population in comparison to clinicopathological parameters and treatment. 150 RNA and 47 DNA samples were isolated from 49 lung cancer cases including both tissue samples and blood taken from the same patients at three time points: diagnosis, 100 days and one year after the surgical intervention. Qualitative and real-time PCR analysis of expression were done, also genotyping by PCR-RFLP. Mutant homozygous TT and allele T are present statistically significantly more frequently in the group of patients with lung cancer. There is no difference with expression level in lung cancer tissue and blood sample taken from the same patients before surgical treatment. On the basis of blood samples analysis it was observed that the expression level of ABCB1 mRNA was growing in time. Higher levels were marked after 100 days and one year after the surgical intervention. The complementary pharmacological treatment induced higher expression levels of ABCB1. The presented data suggest an important role of ABCB1 in lung cancer, the increasing level of ABCB1 mRNA which can be connected with induction of multidrug resistance mechanism is also significant, that observation must be confirmed in further analysis.
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Protocolos de Quimioterapia Combinada Antineoplásica/farmacología , Carcinoma de Pulmón de Células no Pequeñas/genética , Resistencia a Múltiples Medicamentos/genética , Resistencia a Antineoplásicos/genética , Neoplasias Pulmonares/genética , Subfamilia B de Transportador de Casetes de Unión a ATP/sangre , Subfamilia B de Transportador de Casetes de Unión a ATP/genética , Subfamilia B de Transportador de Casetes de Unión a ATP/metabolismo , Anciano , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Carcinogénesis/genética , Carcinoma de Pulmón de Células no Pequeñas/sangre , Carcinoma de Pulmón de Células no Pequeñas/mortalidad , Carcinoma de Pulmón de Células no Pequeñas/terapia , Estudios de Casos y Controles , Quimioterapia Adyuvante , Progresión de la Enfermedad , Femenino , Estudios de Seguimiento , Voluntarios Sanos , Humanos , Estimación de Kaplan-Meier , Pulmón/patología , Pulmón/cirugía , Neoplasias Pulmonares/sangre , Neoplasias Pulmonares/mortalidad , Neoplasias Pulmonares/terapia , Masculino , Persona de Mediana Edad , Estadificación de Neoplasias , Polonia/epidemiología , Polimorfismo de Nucleótido SimpleRESUMEN
Currently, acute lymphoblastic leukemia (ALL) has an overall survival of nearly 80% when it occurs in children, however cure rates among adults are far reduced. Leukemogenesis can be driven up by a slight change in the expression or function of certain transcription factors. CCAAT Enhancer Binding Protein Alpha (CEBPA) is a transcription factor with role in cell cycle regulation, granulocytic differentiation and more. Some studies suggest its oncogenic function. The potential role of CEBPA as an oncogene in ALL development has not been completely elucidated so far. Therefore, the aim of the present study was to evaluate mRNA level of CEBPA gene in 60 adult patients diagnosed with ALL. Quantitative analysis was performed by qPCR reaction. Analysis revealed that men tended to have higher and more variable CEBPA expression levels (P = 0.032). No associations for other parameters (ALL subtype, age, leukocytosis, blast percentage, Philadelphia chromosome presence, CD10 marker presence) were found. When comparing the results of CEBPA expression with patients suffering from acute myeloid leukemia, ALL cases showed statistically significant lower levels of CEBPA (P < 0.0000). It may seem that CEBPA expression level itself has potentially no effect on arising and progression of acute lymphoblastic leukemia, although it is a matter that needs further investigation.
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Proteínas Potenciadoras de Unión a CCAAT/metabolismo , Leucemia-Linfoma Linfoblástico de Células Precursoras/metabolismo , Adulto , Anciano , Anciano de 80 o más Años , Proteínas Potenciadoras de Unión a CCAAT/genética , Femenino , Humanos , Masculino , Persona de Mediana Edad , Leucemia-Linfoma Linfoblástico de Células Precursoras/genéticaRESUMEN
BACKGROUND: CYP2C19 isoenzyme of cytochrome P450 in the liver catabolises proton pump inhibitors, one of the therapeutics utilized in Helicobacter pylori eradication therapy, and in this way could influence the eradication effectiveness. The isoensyme contributes also to metabolism of endogenous substances, which derivatives are involved in the pathogenesis of peptic ulceration. CYP2C19*2 polymorphism (rs4244285) changing the CYP2C19 function could be relevant in the predisposition to peptic ulcer disease. METHODS: CYP2C19*2 polymorphism in 197 peptic ulcer patients and 107 healthy subjects of Polish origin by PCR-RFLP method was investigated. RESULTS: There were no statistically significant differences in genotypes and alleles frequencies for investigated polymorphism between peptic ulcer patients and healthy individuals. No associations between frequencies of particular CYP2C19 genotypes and alleles and the presence of H. pylori infection in peptic ulcer patients were stated. However, significant association between CYP2C19*2 and gender in H. pylori-infected but not -uninfected peptic ulcer individuals was found. CONCLUSIONS: Investigated polymorphism is not a risk factor for peptic ulcer in Polish population. Obtained results could suggested there is some interaction between gender, CYP2C19*2 polymorphism, and pathogenesis of H. pylori infection development. However, this hypothesis should be verified in the further studies.
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Citocromo P-450 CYP2C19/genética , Predisposición Genética a la Enfermedad , Infecciones por Helicobacter/epidemiología , Úlcera Péptica/genética , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Estudios de Casos y Controles , Femenino , Frecuencia de los Genes , Genotipo , Helicobacter pylori/aislamiento & purificación , Humanos , Masculino , Persona de Mediana Edad , Úlcera Péptica/microbiología , Úlcera Péptica/patología , Polonia , Polimorfismo Genético , Polimorfismo de Longitud del Fragmento de Restricción , Factores de Riesgo , Factores Sexuales , Adulto JovenRESUMEN
BACKGROUND: Breast cancer resistance protein BCRP, belonging to superfamily G of the adenosine triphosphate-binding cassette (ABC) transporters, is an efflux pump and plays a critical role in protecting cells against xenobiotics and toxic compounds including (pro)carcinogens. BCRP is expressed in many tissues, including hematopoietic stem cells. Genetic variants such as single nucleotide polymorphisms (SNPs) can change the gene expression and/or reduce their products' activity which may affect an individual's susceptibility to xenobiotics and the development of carcinoma. These changes may affect the exposure of blood cells to toxic compounds, which increases the risk of multiple myeloma. The aim of this study was to determine polymorphisms at positions G34A and C421A of the ABCG2 gene in multiple myeloma in the Polish population for the first time. MATERIALS AND METHODS: Material for the study included DNA isolated from nucleus of cells of peripheral blood of patients diagnosed with multiple myeloma (investigated group N=181) and from healthy people (control group N=97). Research into the polymorphisms was conducted using the polymerase chain reaction-restriction fragment length polymorphism technique. RESULTS: The present study showed a statistically significant association between SNP C421A of the ABCG2 gene and the risk of developing multiple myeloma (P=0.0218). No statistically significant relationship was found for the other parameters analyzed, such as age, gender, or type of secreted immunoglobulin. CONCLUSION: Preliminary studies indicate that SNP C421A may become a potential predictor for the development of multiple myeloma.