Showing 4 results for Genetic Polymorphism
Mirfeizollahi A, Farivar Sh, Akhondi Mm, Modarresi Mh, Hodjat M, Sadeghi Mr,
Volume 66, Issue 12 (3-2009)
Abstract
Background: Pi-GST and Mu-GST are subclasses of glutathione S-transferase that present on human sperm surface and play an important role against oxidative stress. Therefore, any defects in the enzyme activity may be associated with male infertility.In this study the polymorphisms of GSTM1 and GSTP1 in association with enzyme activity and sperm parameters were studied.
Methods: This case-control study involved 95 men with oligoastenoteratozoospermia and 26 controls with normozoospermia. Semen analyses were carried out according to WHO guidelines. Blood DNA was extracted using salting out procedures. GSTM1 and GSTP1 polymorphisms gene were determined through PCR-RFLP and multiplex PCR, respectively. Finally, Glutathione S-transferase activity was measured.
Results: Frequencies of GSTM1 null genotype in oligoastenoteratospermic and normospermic groups were 52.1% and 53.8% respectively. There were no statistically significant differences in sperm parameters and enzyme activity between GSTM1 null and positive genotypes in two groups. There were no statistically significant differences in glutathione S-transferase activity between oligoastenoteratospermia and normospermic groups (p>0.05). All the 121 men in this study had Ile/Ile genotypes at 105 codon of GSTP1. Frequency of normal homozygote (114Ala/Ala), heterozygote (114Ala/Val) and mutant homozygote (114Val/Val) genotypes in oligoastenoteratospermic group were 81.1%, 17.9% and 1.1% respectively but in the control group they were 88.5%, 11.5% and null.
Conclusions: Total glutathione S-transferase activity and sperm parameters were not affected by deficient Glutathione S-transferase activity in GSTM1 null genotype. Compensate activity of other sperm surface glutathione S-transferase isozymes, like GSTP1, may justify the cause.
Jeivad F, Abediankenari S, Shokrzadeh M, Ghasemi M, Taghvaei T, Ansari Z, Najafi Fard M, Hassannia H, Sayiari Mazandarani M, Biranvand E,
Volume 69, Issue 10 (1-2012)
Abstract
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MicrosoftInternetExplorer4
Background: Gastric cancer is one of the most common diseases of digestive
system with a low 5-year survival rate and metastasis is the main cause of death. Multi-factors,
such as changes in molecular pathways and deregulation of cells are involved in
the disease development. Epidermal growth factor receptor pathway (EGFR) which is associated with cell
proliferation and survival can influence cancer development. EGFR function is governed by its
genetic polymorphism thus, we aimed to study the tyrosine kinase domain gene
mutations of the receptor in patients with gastric cancer.
Methods : In this experimental study, 123 subjects (83 patients with gastric cancer and 40
normal subjects) were investigated in
north of Iran for EGFR gene polymorphisms during 1 year. Genomic DNA was extracted by DNA extraction kit according to the manufacture's protocol. Polymerase
chain reaction single-stranded conformation polymorphism (PCR-SSCP) and silver staining
were performed for investigating EGFR gene polymorphisms.
Results : The participants included 72 men and 44 women. Gene polymorphism in exon 18 was present in 10% of the study population but SSCP pattern in exon 19 did not show different migrate bands neither in patients nor in
normal subjects.
Conclusion: It seems that
screening for tyrosine kinas gene polymorphism of epidermal growth factor receptor
in patients with gastric cancer and use of tyrosine kinas inhibitors could be useful
in the prevention of disease progress and improvement of treatment process for
a better quality of life in these patients.
Zohreh Mazloom , Seyed Mohammad Bagher Tabei, Salmeh Bahmanpour , Hamid Reza Tabatabaee , Mahvash Alizadeh Naeni,
Volume 72, Issue 8 (11-2014)
Abstract
Background: Red Blood Cell's (RBC)’s folate may be related to decreased risk of colorectal adenoma. Methylenetetrahydrofolate reductase (MTHFR) is a key regulatory enzyme in folate metabolism. The MTHFR C677T polymorphism is located in the Exon 4 region and is associated with the change of folate level. This study evaluated the associations between RBC’s Folate levels and colorectal adenoma risk, taking into account whether this associations is modified by MTHFR Polymorphism.
Methods: In a case-control study conducted from January to October 2007 in Endoscopy-Colonoscopy ward of Shahid Faghihi Hospital, Shiraz. Participants were 177 case of colorectal adenoma who had pathologic-confirmed adenomatous polyps in full colonoscopy examination and 366 controls without polyps in full colonoscopy. Fasting venous blood were drawn from patients in order to determine RBC’s folate and to identify the MTHFR polymorphism by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique.
Results: Gender Distribution in the patient group were 57.6% male and 42.3% female and control group consisted of 55.1% male and 43.9% female. 50.2% of cases and 49.2% of controls were in the age group “45 years and above”. The T allele frequency was 56.6% in control group and 34.4% in colorectal adenoma patients. There was a significant association between T allele in -677 position of MTHFR gene and colorectal adenoma susceptibility (OR: 1.85, 95% CI: 0.76-4.24, P<0.001). Mean concentration of RBC’s folate was not statistically significant among three groups with TT genotype (mutation homozygote), CT genotype (heterozygote), and CC genotype (wild-type homozygote) (P>0.05) but mean concentration of RBC’s folate was the lowest in TT genotype compare with two other genotype. Odd's Ratio for low (<140ng/ml) versus high level of RBC’s folate in participants with TT genotype was (OR: 2.08, 95% CI: 0.10-2.19, P<0.05) as compare with the CC ones.
Conclusion: The result of this study suggested an inverse association between RBC's folate concentration and colorectal adenomas risk, which may be more relevant for those with the MTHFR TT genotype.
Homayoun Tabesh, Azadeh Keivani Borojeni , Mohammad Bagher Sadeghi , Maedeh Rouigari, Mohammad Hesamian, Bahram Aminmansour, Hamidreza Khani ,
Volume 79, Issue 4 (7-2021)
Abstract
Background: lumbar disc degeneration is a multifactorial degenerative disease which is affected by genetic inheritance and environmental factors. Type XI collagen is important for organization of the extracellular matrix and cartilage collagen construction. Rs1676486 is a SNP that causes the conversion of C-T, resulting in a change in the expression of the collagen 11 alpha chain. The T allele reduces the alpha 1 chain transcription of collagen 11 and ultimately leads to an imbalance in gene expression.
Methods: This study aims to determine the genetic variant of alpha1 type11 collagen is associated with the progress of intervertebral disc degeneration. All patients were selected from the AL-Zahra Hospital of medical university of Isfahan, Iran, between April 2016 and September 2017. SNP rs1676486 of alpha1 type11 collagen was genotyped in 100 patients and 100 healthy controls. The inclusion criteria for patients were: individuals who had typical clinical and imaging symptoms and signs of intervertebral disc degeneration. Exclusion criteria were: patients with trauma, metabolic and neuromuscular diseases, and congenital disorder of the spine. The Genomic DNA was extracted from peripheral blood samples by a Whole Blood Genomic DNA Extraction Kit. The chi-square test and fisher’s exact test were evaluated to determine differences of genotype and allele distributions between intervertebral disc degeneration patients and healthy controls. To compare the relationship between genotypes and clinical features the Mann-Whitney U test was used.
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Results: The mean age was 39.54±9.52 years for the patients and 28.14±5.32 years for the controls, respectively. The mean BMI were 26.3±3.18 kg/m2 and 27.3±3.52 kg/m2 for the patients and the controls, respectively. In addition, the results showed that the prevalence of surgical disc in patients with L4-L5 levels was 52.1% and L5-S1, with 31.1%. This study showed, rs1676486 in alpha1 type11 collagen gene was associated with modified intervertebral disc degeneration at age ≤50 years and this gene increases intervertebral disc degeneration risk at age >50 years. SNP rs1676486 had the significant association with the intervertebral disc degeneration (P=0.019), and patients were found to have higher frequency of AA than the controls.
Conclusion: This observation shows that type XI collagen is related to age and genetic factor in intervertebral disc degeneration disease.
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