Hematopathology
Zakieh Rostamzadeh Khameneh; Mahshid Mohammadian; Ali Eishi Oskuie; Rahim Asghari; Mohadeseh Nemati
Abstract
Background & Objective: Interleukin-6 (IL-6) is involved in inflammation and has a significant role in chronic lymphocytic leukemia (CLL) progression. Accordingly, IL-6 level may increase in CLL-affected patients compared to healthy individuals. The -174G>C single nucleotide polymorphism (SNP) ...
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Background & Objective: Interleukin-6 (IL-6) is involved in inflammation and has a significant role in chronic lymphocytic leukemia (CLL) progression. Accordingly, IL-6 level may increase in CLL-affected patients compared to healthy individuals. The -174G>C single nucleotide polymorphism (SNP) in IL-6 promoter region has been related to differences in IL-6 transcription. Therefore, we investigated the possible association of IL-6 polymorphism with CLL.Methods: We examined the -174G>C SNP in IL-6 gene and studied its possible relationship with CLL in affected patients and in healthy controls using Amplification Refractory Mutation System- polymerase chain reaction genotyping method. IL-6 plasma level was measured in both studied groups.Results: According to the results, IL-6 mean plasma concentration was increased significantly in the CLL patients compared to the controls. However, 174G>C genotype of the IL-6 gene was not associated with CLL. Furthermore, there were no significant differences in the distribution of allele and genotype frequencies between the CLL-affected patients and the controls (P>0.05).Conclusion: Our study showed that -174G>C SNP in promotor of IL-6 gene could not be considered a risk factor for CLL. Larger prospective studies should be performed to confirm our results.
Molecular Pathology
Zohreh Rahimi; Maryam Bozorgi Zarini Bozorgi Zarini; Ziba Rahimi; Ebrahim Shakiba; Asad Vaisi-Raygani; Mohammad Taher Moradi; Kheirolah Yari
Abstract
Background & Objective: Breast cancer (BC) is known to be the most prevalent cancer among women. One-carbon metabolism (OCM) disturbance might play an important role in the etiology of BC. The present study aimed to investigate the thymidylate synthase (TYMS), 5-methyltetrahydrofolate-homocysteine ...
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Background & Objective: Breast cancer (BC) is known to be the most prevalent cancer among women. One-carbon metabolism (OCM) disturbance might play an important role in the etiology of BC. The present study aimed to investigate the thymidylate synthase (TYMS), 5-methyltetrahydrofolate-homocysteine methyltransferase (MTR), and methionine synthase reductase (MTRR) variants as good candidates for studying the role of genetic variants of folate metabolizing enzymes in the risk of BC.Methods: The present case-control study consisted of 100 BC patients and 141 healthy females. The TYMS 2R/3R (rs34743033), MTR c.2756A>G (rs1805087), and MTRR c.66A>G (rs1801394) variants were detected by polymerase chain reaction (PCR), PCR-restriction fragment length polymorphism (RFLP), and a designed amplification-refractory mutation system (ARMS) method, respectively.Results: The 3R allele of TYMS enhanced the risk of BC by 2.84-fold (p <0.001). In the presence of TYMS 3R/3R, compared to TYMS 2R/3R, there was a trend toward enhancing the risk of metastasis by 4.15-fold (95% CI: 0.96-17.85, p =0.055). The frequencies of MTR c.2756A>G and MTRR c.66A>G variants were not significantly different among patients and controls.Conclusion: We observed that the TYMS 3R is a risk allele for susceptibility to BC and this allele tends to increase the BC metastasis.
Biology & Genetic
Meysam Rezaeishahmirzadi; Neda Motamedi Rad; Mehdi Kalantar; Hossein Ayatollahi; Sepideh shakeri; Maryam Sheikhi; Mohammad Shekari
Abstract
Background and Objective: The current study aimed at assessing the relationship between gastritis and peptic ulcer susceptibility and inflammation-related gene polymorphisms in Iranian patients. Gastritis and peptic ulcer are common medical complications with serious outcomes on the quality of life. ...
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Background and Objective: The current study aimed at assessing the relationship between gastritis and peptic ulcer susceptibility and inflammation-related gene polymorphisms in Iranian patients. Gastritis and peptic ulcer are common medical complications with serious outcomes on the quality of life. Inflammatory responses of gastric mucosa are associated with helicobacter pylori, but most infected patients remain asymptomatic. There is strong evidence that inflammatory response is a major part of its etiology. Methods: The current case-control study aimed at examining genetic polymorphisms in inflammatory cytokines interleukin (IL)-4, and IL-10 using polymerase chain reaction-variable number tandem reaped (PCR-VNTR) and PCR-restriction fragment length polymorphism (RFLP) methods, respectively in 603 genotyped patients admitted to Mohammadi Hospital in Bandar Abbas, Iran (198 patients with gastritis, 84 with peptic ulcer, and 321 patients as controls). Results: No significant associations were detected in genotype and allele frequencies of IL-10 and IL-4 between the case (with gastritis and peptic ulcer) and control groups. Conclusion: In conclusion, the results of the analyses suggested that these polymorphisms may not predispose the carriers to gastritis and peptic ulcer development.
Pezhman Fard-Esfahani; Shohreh Khatami
Volume 5, Issue 1 , January 2010, , Pages 22-26
Abstract
Background and Objective: Familial hypercholesterolemia (FH) is an autosomal trait, which is caused by mutations in Low Density Lipoprotein Receptor (LDLR) gene. FH penetrance is about 100% and worldwide prevalence for heterozygous subjects is almost 1 in 500 and for homozygous 1 in 1,000,000. ...
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Background and Objective: Familial hypercholesterolemia (FH) is an autosomal trait, which is caused by mutations in Low Density Lipoprotein Receptor (LDLR) gene. FH penetrance is about 100% and worldwide prevalence for heterozygous subjects is almost 1 in 500 and for homozygous 1 in 1,000,000. The patients are at risk of premature coronary heart disease (CHD) due to defective LDLR and hence cholesterol metabolism disorder. The aim of this study was identifying genotype of possible mutation in an Iranian FH patient. Materials and Methods: Promoter and all 18 exons including exon-intron boundaries of LDLR gene were scanned. Polymerase chain reaction - single strand conformation polymorphism (PCR-SSCP) was used as mutation scanning method. DNA sequencing was used to identify any nucleotide change(s). Results: A new frameshift mutation (660-661InsCC) was found in proband. Conclusion: This mutation causes a truncated, non-functional protein, which results in hypercholesterolemia. The mutation can be screened in proband's relatives to find other FH patients.
