RESUMEN
BACKGROUND: Tumor necrosis factor-α (TNFα) is a crucial physiologic regulator of immune responses, and several disorders have been associated with its dysregulation. OBJECTIVE: This study aimed to understand TNFα gene expression in adult patients with liver and pancreas disorders and examine the impact of TNFα-238 genotypes on this population. METHODS: At the Ibn Al-Baladi Hospital in Baghdad, blood samples were collected from forty patients who were diagnosed with beta thalassemia together with pancreatic disease, forty patients who were diagnosed with thalassemia together with liver disorder, and forty patients who were diagnosed with thalassemia without pancreas or liver disorder. For the purpose of establishing a control group, forty samples were collected from persons who were of the same age and gender and seemed to be in good health. All of these individuals were deemed to be older than 18 years old. Through the utilization of real-time polymerase chain reaction (PCR), the level of TNF-α gene expression was investigated and assessed. The T-ARMS-PCR method was performed for detection and genotyping of TNFα-238 in thalassemia patients and healthy control samples. RESULTS: The result showed that TNF α gene expression assessment showed that group B (thalassemia patients with liver disorder) had higher folding than other groups while the lowest gene expression was in group D (as control group). Furthermore, the relationship between TNFα gene expressions folding with TNFα-238 genotypes in beta thalassemia major patients, discovered a considerable increase at GA genotype patients in TNFα gene expression level, followed by AA genotype compared to the GG genotype. Furthermore, the results of the current study showed an association between the presence of the mutant (A) allele whether heterozygous (GA) and homozygous (AA) with the TNF-α gene expression in thalassemia patients with liver and pancreatic disorders. CONCLUSION: Based on the results, it can be concluded that there is a relationship between the presence of the mutant (A) allele, whether heterozygous (GA) or homozygous (AA) of TNF-α 238, and TNF-α gene expression in liver and pancreatic diseases as well as in patients with thalassemia.
Asunto(s)
Genotipo , Hepatopatías , Enfermedades Pancreáticas , Factor de Necrosis Tumoral alfa , Talasemia beta , Humanos , Talasemia beta/genética , Factor de Necrosis Tumoral alfa/genética , Adulto , Masculino , Femenino , Irak , Hepatopatías/genética , Enfermedades Pancreáticas/genética , Polimorfismo de Nucleótido Simple/genética , Adulto Joven , Estudios de Casos y Controles , Frecuencia de los Genes , Expresión Génica/genética , Adolescente , Predisposición Genética a la Enfermedad , AlelosRESUMEN
BACKGROUND: Multiple Sclerosis known as MS, this chronic inflammatory demyelinating condition affects the nervous system. It is a heterogenic and multifactorial disease. The goal of the current study was to investigate the relationship between MS patients' IL18 gene expression and the vitamin D receptor gene polymorphism (FOK1rs2228570). OBJECTIVE: The aim of the study to investigate the association of vitamin D receptor (FOK1rs2228570) gene polymorphism and pro inflammatory cytokine (IL18) gene expression among multiple sclerosis Iraqi patients. Detection VDR polymorphism and determine whether this SNP is involved in susceptibility to multiple sclerosis and estimation IL18 gene expression and explore its relation with multiple sclerosis susceptibility. METHODS: Blood samples were taken from 75 MS patients in Iraq (30 men and 45 women), as well as from 75 volunteers who seemed to be in a favorable state of health and fell within the age range of 20 to 50 years. Tetra-ARMS Polymerase Chain Reaction (Tetra-ARMS PCR) was used to find polymorphisms in the vitamin D receptor (VDR) gene, and Real-time Polymerase Chain Reaction (RT-PCR) was used to measure IL18 gene expression. RESULTS: The findings from the analysis of VDR gene polymorphism in patients with MS indicated that the wild-type genotype T/T was present in 8 individuals, accounting for 10.6%, the heterogeneous genotype TC was 36 (48%), and the homogeneous genotype CC was 31 (41.3%), whilst T allele frequency was 52(34.6%) and C allele was 98(65.3%) with (P⩽ 0.01) significant difference and even as in control T/T genotype was 49(65.3%), TC genotype was 21(28%), CC genotype was 5(6.66%), T allele frequency was 119(79.3%) and C allele was 31(20.6%) with significant difference (P⩽ 0.001). While estimation of IL18 expression showed high elevation in patients' group (2.59 ± 0.51 fold) by significance difference (P⩽ 0.5) when compared to control group (1.35 ± 0.14 fold). The relationship between IL18 gene expression with VDR variant in MS patients demonstrated a significant rise (2.9 ± 0.51 fold) at CC genotype patients in IL18 folding gene expression, followed by (4.6 ± 0.17 fold) in TC genotype patients and finally (1.4 ± 0.08 fold) in TT genotype patients with highly significant (P⩽ 0.01). CONCLUSION: The VDR(FOK1rs2228570) genotype was significantly correlated with IL18 expression in MS patients from Iraq.
Asunto(s)
Esclerosis Múltiple , Receptores de Calcitriol , Masculino , Humanos , Femenino , Adulto Joven , Adulto , Persona de Mediana Edad , Receptores de Calcitriol/genética , Esclerosis Múltiple/genética , Interleucina-18/genética , Irak , Predisposición Genética a la Enfermedad/genética , Polimorfismo de Nucleótido Simple/genética , Genotipo , Frecuencia de los Genes/genética , Estudios de Casos y Controles , Expresión Génica/genética , Vitamina DRESUMEN
BACKGROUND: TNF-α has been considered as the key regulator of inflammatory responses and is known to be participated in the pathogenesis of several diseases. OBJECTIVE: The aim of this study was to explore the relationship of (rs1800629) gene polymorphism associated to liver and pancreas disorders in sample of ß-thalassemia major adult Iraqi Patients. MATERIAL AND METHOD: Blood samples were obtained from 40 patients suffered from beta thalassemia with pancreas disorder, along with 40 patient suffered from thalassemia with liver disorder, and 40 patient suffered from thalassemia without pancreas or liver, from Ibn Al-Baladi Hospital, Baghdad, and 40 samples from age and gender-matched apparently healthy individuals as control group, all subjects with age more than 18 years. TNF-308G/A (rs1800629) gene polymorphisms were assessed by Tetra- ARMS-PCR. RESULTS: The result of showed that heterogeneous GA and homogeneous AA genotypes were higher, while GG wild genotype was lower in beta thalassemia major patients with liver and pancreas disorders compared to control group. CONCLUSION: It can be concluded that the prevalence of TNF-α 308 G/A SNP plus (A) allele could be associated with risk of liver and pancreas disorders in sample of beta thalassemia major adult.