Background: Asthma is a chronic respiratory disease with variation in induces clinical symptoms and response to therapy. Several IL-13 single nucleotide polymorphisms (SNPs) associated with asthma predisposing in particular populations. IL-13 variants may play role in dysregulation of immunoglobulin E. Aims to the study association of single nucleotide polymorphisms (SNPs)of IL13 gene (rs20541 and rs1295686) with asthma. Methods and materials: Subjects and methods total of ninety ( 90) adult patients with asthma were included in the current study. 51 (56.7%) were females and 39 (43.3%) were male. Their age range from 18 to 75 years compared to ninety (90) of apparently healthy people as control group. The detection of IL-13 serum levels by using ELISA, while the determination of IL-13 Gene polymorphisms (rs20541 and rs1295686) by using Conventional-PCR (Polymerase Chain Reaction). Results: this study revealed that the serum level of IL-13 was significantly differences between asthmatic and control groups (p-value =0.02). Regarding IL-13 rs20541, the results revealed a statistically significant difference between patients and control for genotypes GA, AA (P-value = 0.0167, P-value = 0.021 respectively) and allele frequency (A) p-value 0.0002, on other hand the IL-13 rs1295686 revealed statistically significant difference between patients and control for genotypes CT, TT (P-value = 0.0009, P-value = 0.0005) respectively and allele frequency (T) with p-value <0.0001.Conclusion: In conclusion, the increased frequency in genotypes (GA, AA and CT, TT) of IL-13 polymorphisms (rs20541 and rs1295686) respectively, and "A"," T" alleles of these variants could be considered as a risk factors for asthma developing.
Objectives Inhaled corticosteroids are the most effective controllers of asthma, although asthmatics vary in their response. FKBP51 is a major component of the glucocorticoid receptor which regulates its responses to corticosteroids. Therefore, the present study aims to identify the role of FKBP5 gene polymorphism in asthma susceptibility and corticosteroid resistance. Methods DNA was extracted from the blood of 68 asthmatic and 40 control subjects. FKBP5 gene fragments were amplified by PCR and sequenced by the Sanger method. The sequencing results were aligned by mapping on the reference sequences of National center of Biotechnology Information (NCBI) and single nucleotide polymorphisms (SNPs) which were checked. Finally, the genotype, allele frequency and odds ratio (OR) were calculated. Results The FKBP5 fragment sequencing revealed the presence of rs1360780 and one novel SNP found in 17 samples taken from asthmatic patients as compared to db SNP data in the NCBI database. The FKBP5 variant (rs1360780) indicated that the allele frequency of risk allele T was 41.18% in patients and 20% in control group members p<0.001 and OR=2.8 when compared to a wild C allele frequency of 58.82% in patients and 64% in the control group members. The novel SNP FKBP5 was compared to the SNP database in the NCBI database in which wild T allele was substituted with G. The novel SNP was submitted to the ClinVar Submission Portal at NCBI with accession number: rs1581842283 and confirmed an asthma susceptibility risk factor with allele G frequency of 11.76% in asthmatics and 2.5% in the control group members (OR=5.2, p<0.05), as compared to a wild T allele frequency of 88.24% in asthmatics and 97.5% in the control group members. Conclusions The risk allele T of rs1360780 and the novel SNP rs1581842283 risk allele G predict asthma susceptibility but show no association with corticosteroid resistant.
Portal vein aneurysm (PVA) is a rare vascular entity of uncertain etiology. Saccular PVA is the less frequently reported morphology but often with more symptoms or complications. Ultrasound, along with color doppler study, is a valuable tool in the diagnosis and follow-up.
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