Showing 43 results for Polymorphism
Baniaghil S, Sarafnejad A, Amirzargar A, Khosravi F, Ansaripour B, Moradi B, Dorkhosh S, Nikbin B,
Volume 64, Issue 11 (10-2006)
Abstract
Background: The outcome of acute hepatitis B infection may be influenced by host genetic factors like human leukocyte antigen (HLA). To investigate the association between the HLA-DRB, DQA1 and DQB1 alleles and chronic hepatitis B infection, 50 patients with chronic hepatitis B (based on 6 months positive of HBsAg and HBc antibody and HBeAg and antibody by serological test), were selected from Turkman population in north east of Iran .Allele frequency in patients were compared with a 65 aged and sex match control group from healthy blood donor of that ethnic population.
Methods: HLA DRB, DQA1 and DQB1 alleles were determined using polymerase chain reaction based on sequence specific primer (PCR-SSP) method. Allele frequencies in patients and control subjects were compared by Epi-info statistical soft-wear.
Results: There was a significant increase and positive association in HLA-DRB1*0301, DQA1*0501 and DQB1*0604 allele frequency in patients group while the frequency of HLA-DRB1*1301, 1501 and DQB1*0401 and DQA1*0401, 0102 were lower in patients than control group and shows negative association.
Conclusion: In Iranian Torkman population, HLA DRB1*0301, DQA1*0501 and DQB1*0604 have an important role in susceptibility to chronic hepatitis B infection and HLA DRB1*1301, 1501, DQB1*0401 are associated with protection to chronic hepatitis B infection. Larger case control studies may be helpful to confirm our investigation.
Chamani-Tabriz L, Tehrani Mj, Zeraati H, Asgari S, Tarahomi M, Moini M, Ghasemi J,
Volume 66, Issue 7 (10-2008)
Abstract
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MicrosoftInternetExplorer4 !mso]>
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Background: Chlamydia
trachomatis is a common and curable STI that may be
symptomatic or asymptomatic. The few studies on C. trachomatis among Iranian women have
had, for the most part, small sample sizes and are therefore unsuitable for
epidemiological deductions. The aim of this study was to estimate the
prevalence of urogenital C. trachomatis infections by PCR on urine samples of married women in their
fertile years in order to determine the need for a C. trachomatis screening program for
asymptomatic women in Iran.
Methods: This descriptive-analytical and cross-sectional study
was performed on 991 married women. The research material consisted of
questionnaires and urine samples, which were transported daily to Avesina
Research Institute, Tehran,
Iran, to
extract their DNA and prepare them for PCR tests. The gathered data were
analyzed by SPSS, version 13, and evaluated statistically by t-test, chi-square
test, Fisher's exact test and logistic regression, considering p<0.05 as
significant.
Results: Of all the subjects, 127 (12.8%) were positive by PCR for C. trachomatis.
The mean age of the participants was 28.88±
6.19 years. Infection was more prevalent among
those with lower levels of education, who were employed and not pregnant. This
infection was more prevalent among those who were using contraception, especially
condoms. Reproductive history revealed that infection was more prevalent among
participants with a history of vaginal discharge, pelvic pain, infertility and
low birth-weight infants, and less prevalent among those with a history of abortion,
preterm delivery and ectopic pregnancy. However, these patterns were not statistically
significant.
Conclusion: In populations with C. trachomatis prevalences higher than 4%,
screening programs are recommended. Thus, Chlamydia screening should be part of the health care program in Iran to reduce the
burden of this disease.
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.
Massoud A, Sheikh Bahai N, Massoud M, Salehi E, Massoud Ah, Vojgani M, Rajab A,
Volume 67, Issue 1 (4-2009)
Abstract
Background: Type I diabetes is an autoimmune disease characterized by T-cell Mediated destruction of pancreatic β-cells. A variety of environmental, genetic and Immunologic factors are involved in the development of the disease. IL18 is a cytokine secreted by macrophage and monocytes and play an important role in the pathogenesis of diabetes Type I through inducing IFN-γ production. It is shown to be strongly associated with the development of diabetes in NOD mice. It is also shown to have increased level in the subclinical stage of diabetes mellitus (type 1). Genetic polymorphisms in the IL-18 gene influence production and secretion of cytokine and are considered as a risk factor in auto-Immune diseases.
Methods: In this case control study, 75 type I diabetic patients and 88 healthy controls studied for polymorphism at positions -137 and -607. DNA extraction from the whole blood was performed according to the standardized method and polymorphism was determines by SSP-PCR. Data were analyzed by SPSS-12 using Chi-Square Test with 95% Confidence interval.
Results: A statistical significant difference in GG genotype (53%) and CC genotype (16%) at the -137 position of IL18 gene was found, as compared to the control subjects (p=0.000) whereas we have not shown any statistical significance at the position -607.
Conclusion: IL18 is a key cytokine secreted by macrophages and monocytes and stimulate the Th1 lymphocyte. This cytokine can activate cytotoxic T lymphocytes (CTL) and destroy the pancreatic β cell. Our results show that the frequency of GG and CC genotypes at the position -137 may be associated with susceptibility to diabetes.
Abiri M, Sadeghian S, Hakki E, Boroumand Ma, Mehdipour P, Izadi M, Keramatipour M,
Volume 67, Issue 2 (5-2009)
Abstract
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Background: Coronary
Artery Disease (CAD) is a major cause of death worldwide including Iran. The risk of developing disease in patients
without symptoms is assessed in part by factors that are associated with disease.
Among these factors family history points to the significance of genetic
component in the risk of CAD. The identification of the genetic variants that
confer risk for CAD is essential for detecting high-risk individuals, so
preventative life style and therapeutic action can be taken before overt
disease develops. So far more than 100 genes have been reported with possible
role in developing risk for CAD. Matrix- Gla Protein (MGP) is one of these
genes that association of its single nucleotide polymorphism (SNP) with CAD has
been reported. Among the polymorphisms,
there are two promoter SNPs at position -7 & -138 that their association
with CAD has been reported before. Here we investigated the association of
these SNPs with CAD in Iranian population.
Methods: 150 cases and 150 controls were selected on the basis of their
clinical assessments and angiographic reports. DNA was extracted from blood
samples. The genotypes for both SNPs were determined using Polymerase Chain
Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) method with size
fractionation on Polyacrylamide gel.
Results: The
comparison of allele & genotype frequencies between patients and controls
showed that there is an excess of A allele at position -7 and T allele at
position -138 among patients, although these differences were not significant (p<0.2, and p<0.5 respectively).
Conclusions: This study
suggests no association of these SNPs with CAD in Iranian population.
Confirmation of this finding needs independent repeat of similar studies.
Keywords: Coronary
Artery Disease (CAD), Matrix Gla Protein (MGP), Single Nucleotide Polymorphism (SNP).
Kazemi Arababadi M, Pourfathollah Aa, Jafarzadeh A, Hassanshahi Gh, Rezvani Me,
Volume 67, Issue 5 (8-2009)
Abstract
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MicrosoftInternetExplorer4 Background: Occult hepatitis
B infection (OBI)
is a form of hepatitis in which despite absence of detectable HBsAg, HBV-DNA
is present in peripheral blood of patients. The responsible mechanisms for
progression of OBI yet to be clarified, but some investigators believed that the genetics and
immunological parameters are different in resistant individuals and patients.
Vitamin D3 and its receptor interaction
could be involved in anti-viral immune response. The aim of this study was to
investigate the association between polymorphisms in intron 8 of VDR with OBI.
Methods: In this experimental study, the plasma samples of 3700
blood donors were collected and tested for HBsAg and anti-HBs by ELISA.
The HBsAg negative and anti-HBc positive
samples were selected and screened for HBV-DNA
using PCR. HBV-DNA positive samples were assigned as OBI cases and PCR-RFLP
was performed to examine the polymorphisms in intron 8 of VDR genes.
Results: Results of current study indicated that 352 (9.5%)
of 3700 blood samples were HBsAg- and anti-HBc+. HBV-DNA
was detected in 57/352 (16.1%) of HBsAg- and anti-HBc+ samples.
Our results showed that no significant difference was observed in Apa-1 polymorphisms
of intron 8 of VDR and OBI patients.
Conclusion: Our results demonstrated
that there are not any association between Apa-1 detected alleles and OBI, hence, it can be concluded that these alleles are
not associated with OBI and other researchers
should evaluate relation between other polymorphisms of VDR with OBI.
Haleh Akhavan Niaki, Reza Tabaripour, Mohammad Reza Esmaeeli Douki, Mandana Azizi, Javad Tavakoli Bazzaz, Bagher Larijani,
Volume 68, Issue 1 (4-2010)
Abstract
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Background: Cystic
fibrosis is a monogenic recessive disorder founds predominantly in caucasian
population causes exocrine glands function defect. This disease arises from
mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
Because of heterogeneity of the mutations in CFTR gene, phenotypic symptoms in
this disease are very variable. In this study we consider poly T polymorphism (T5, T7, T9) in the intron 8 of CFTR gene in normal individuals and cystic fibrosis
patients in mazandaran province.
Methods: Forty cases of cystic fibrosis patients and 40 normal
individuals were screened for poly T polymorphism in intron 8 of CFTR gene using
Reverse Dot Blot method.
Results: T7 allele is the most prevalent in normal individuals
and CF
patients and it's abundance is approximately 75%. T9 and T5 represent
approximately 20% and 5% of normal or mutant alleles respectively. T7/T7 genotypes in normal individuals and CF patients are the most prevalent with 72.5% and 60% prevalence rate,
respectively. T5/T9 and T5/T5 genotypes were not found. 22.5% of normal
individuals and 30% of CF patients had heterozygote genotypes.
Conclusion: The abundance of T5, T7, T9 alleles and the presence of 22.5-30% heterozygote genotypes in normal individuals and CF patients indicates
that poly T
polymorphism in intron 8 of
CFTR
gene can be used as a marker for detection of normal and mutant alleles in
prenatal diagnosis or can be used in carrier assessment in families with
previous history of the disease.
Ahmadi Shadmehri A, Nicknam Mh, Shokrgozar Ma, Mahmoudi M, Sarial Sh, Ahmadi Shadmehri A, Moradi B, Farhadi E, Amirzargar Aa,
Volume 68, Issue 2 (5-2010)
Abstract
Background: Multiple sclerosis (MS) is a chronic inflammatory demyelinating disease of the central nervous system with presumed autoimmune origin. T cells are considered to play a pivotal role in orchestrating the self-reactive immune responses in multiple sclerosis (MS). This study was performed to investigate the role of polymorphisms of the programmed cell death 1 (PD-1) gene on susceptibility to ankylosing spondylitis.This gene codes an immunoreceptor named PD-1, which has a cytoplasmic domain containing two tyrosine residues located within immunoreceptor tyrosine-based inhibitory and switch motifs (ITIM and ITSM), suggesting that PD-1 is predominantly inhibitory which responsible for the negative regulation in T cell activation and peripheral tolerance. We investigated whether PD-1 gene polymorphism is a genetic modifier for risk and progression of MS.Methods: Blood samples from 150 Iranian Relapsing-Remitting MS patients (mean age,
34.98 years) and 202 healthy controls (mean age, 30 years) were enrolled in this study.The PD-1.3 (7146 G/A Intron 4) and PD-1.9 (7625 C/T Exon 5) polymorphisms were detected by Polymerase Chain Reaction and Restriction Enzyme digestion or Restriction Fragment Length Polymorphism (PCR-RFLP).
Results: No significant association of the mutated alleles with the disease were detected. Because of the ethnic group genetic variation, our data is not like some of
Asian population such as Korea and China.Conclusions: Our data suggest that PD-1 polymorphisms are not act as genetic modifiers of the progression of MS, possibly these polymorphisms don't induce a partial defect in PD-1 mediated inhibition of T-cell activation.
Yazdani N, Mohammad Amoli M, Mersaghian A, Bagheri Hagh A, Sayyahpour F, Fotuhi R,
Volume 68, Issue 7 (10-2010)
Abstract
Background: CD14 is known as a receptor for bacterial LPS (Lipopolysaccharides) and is followed by inflammatory reactions. This receptor on macrophage surface has a major role for recognition and clearance was happen without inflammatory reaction. Prolonged exposure to microbial products decreases the risk of allergic reactions. This is related to high level of CD14 in blood cells. Although the causes of nasal polyposis is not obviously determined but allergy is a potential risk factor for nasal polyposis. CD14 is in 5q31 chromosomal position and CD14 variants have association with asthma. We try to assay association between CD14 polymorphism and nasal polyposis and severity of this disease.
Methods: We had 106 patients with nasal polyps with mean age 41 y old in case group and 87 with mean age 36.7 in control group. We obtained 3 ml whole blood from each patient and then extract DNA by PCR-RFLP method and determined variant genotypes of CD14. Although there is no previous study in this field, the results of this pilot study shown in more detailed below.
Results: There is significant relationship between C allele (CC + CT) in comparison with TT (p= 0.03, odds ratio= 1.87, CI 95% (0.99- 3.55)) and nasal polyposis. Further-more another significant relationship had been shown between asthmatic patients and C allele (CC) in comparison with (CT + TT). (p= 0.01, odds ratio= 3.8, CI (0.99- 13.9). In asthmatic patients with C allele of CD14 incidence of nasal polyposis increased.
Conclusion: Based on the results of this study, C allele of CD14 could play a role in nasal polyposis.
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)
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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.
Barkhordari Asgar, Hassanzadeh Taghi, Saidijam Masoud, Esmaeili Rasoul, Paoli Max,
Volume 69, Issue 12 (3-2012)
Abstract
Background: Hypercholesterolemia is considered a major risk factor for pancreatitis, atherosclerosis and coronary heart disease. Cholesteryl ester transfer protein gene polymorphisms are known to be associated with changes in lipid levels. We investigated the association between a polymorphism in the CETP gene (D442G) with plasma lipid levels and CETP activity in patients with hypercholesterolemia.
Methods: This case/control study that be done in Hamadan university of medical sciences (from October 2008 to September 2009), included 102 patients with hypercholesterolemia and 200 healthy individuals. Polymerase chain reaction and restriction fragment length polymorphisms were used to determine genotypic distribution and allelic frequencies of polymorphisms. The plasma CETP activity was measured by a kit in a fluorescence spectrometer. Lipid concentrations were measured by routine biochemical and enzymatic assays.
Results: Plasma cholesteryl ester transfer protein activity was significantly higher in the cases than the controls (P<0.05). The genotypic and allelic frequencies for this polymorphism were not statistically different between the patients with hypercholesterolemia and the controls (in controls: DD 96%, DG 4%, GG 0% and in cases: DD 86%, DG 10%, GG 4%), (P>0.05). Plasma HDL-C, LDL-C and TC were higher in both groups with GG and DG genotypes than with DD genotype, whereas serum CETP activity was lower in GG genotype compared with other genotypes (GD or DD), (P<0.05).
Conclusion: The results showed that D442G polymorphism of CETP gene was associated with changes in lipid profile and plasma CETP activity in the selected population and it might have a role in contributing to a genetic risk for developing coronary artery disease.
Ghatreh Samani K, Farrokhi E, Hashemzadeh Chaleshtory M, Azadegan F,
Volume 70, Issue 1 (4-2012)
Abstract
Background: Paraoxonase-1 (PON1) moves with high-density lipoprotein (HDL) particles in blood and prevents low-density lipoprotein (LDL) particles from oxidation. The aims of this study were to investigate the correlation between fatty acid composition of HDL phospholipids with pon-1 polymorphisms and response to lovastatin treatment in people with high blood cholesterol.
Methods: In this descriptive study, 265 patients were selected and divided into two groups based on LDL-C concentrations 131 patients with LDL-C greater than 130 mg/dl (cases) and 134 patients with LDL-C lower than 130 mg/dl (controls). Fatty acids of HDL phospholipids were measured with gas chromatography and lipid profile (cholesterol, triglyceride, LDL-C, HDL-C), apolipoprotein A1 and apolipoprotein B were measured by relevant commercial kits. Oxidized LDL was measured by ELISA method and activity of paraoxonase was determined by a relevant standard manual method. Genotypes of L55M polymorphism were determined by polymerase chain reaction-restriction fragment length polymorphism procedure.
Results: Prevalence of L allele from L55M polymorphism was 0.65 and 0.53 in the case and control groups, respectively (P=0.04). PON1 paraoxonase activity in LL homozygote genotype was higher than other genotypes upon treatment with lovastatin. Concentrations of oleic, linoleic and eicosapentaenoic acids in LL genotype were increased by lovastatin administration.
Conclusion: Allele (L) from L55M polymorphism had a higher frequency in patients with higher LDL-C concentrations. PON1 genotypes seemed to have a modifying role on paraoxonase-1 activity after lovastatin therapy.
Hassanzadeh T, Barkhordari A,
Volume 70, Issue 7 (10-2012)
Abstract
Background: Coronary heart disease (CHD) is a leading cause of death worldwide and hypertriglyceridemia and hypercholesterolemia are major risk factors for the disease. Considering the role of hyperlipidemia as the underlying cause of cardiovascular mortalities and morbidities, and the limited and conflicting results of studies on CETP gene polymorphisms in Iran, we aimed to study -971 G/A polymorphism of cholesterol ester transfer protein gene in patients with primary hyperlipidemia.
Methods: In this case-control study performed in Hamadan University of Medical Sciences (from May 2010 to April 2011), we recruited 200 patients with primary hyperlipidemia (total cholesterol >250 mg/dl and/or triglyceride >200 mg/dl) as the cases and 200 healthy individuals with normal cholesterol and triglyceride as the control group. Gene segments were replicated by polymerase chain reaction (PCR) and -971 G/A polymorphism genotypes were identified by RFLP technique. Subsequently, plasma CETP activity was measured enzymeatically by a kit in a fluorescence spectrometer.
Results: The allele and genotype frequencies were not significantly different (P>0.05) between the two groups (in the control group: AA 24%, GA 47% and GG 28.5% and in the case group: AA 18%, GA 51% and GG 31%). In the case group, homozygous individuals with A alleles (AA genotype) had greater cholesterol and HDL-c concentrations than those with other alleles (GG and GA). In both cases and controls, individuals with AA genotype had lower CETP concentrations.
Conclusion: We conclude that -971 G/A polymorphism in CETP gene promoter can affect lipid profile and alter CETP activity.
Saeid Abediankenari, Mohammad Shokrzadeh, Hamed Haghi Aminjan, Nafiseh Nasri, Ahad Alizadeh,
Volume 71, Issue 8 (11-2013)
Abstract
Background: Gastric cancer is the most prevalent cancer with poor survival in gastrointestinal tract. Caspase 3 and 9 play an important role in the development and progression of cancer. Polymorphisms in the genes for these enzymes can affect gene activity and thus may influence susceptibility to gastric cancer. In this study, caspase 3 and 9 genes polymorphisms in patients with gastric cancer were examined.
Methods: In a case - control study, 100 patients with gastric cancer and 100 healthy individuals were evaluated in the region rs4647601: G> T for caspase-3 and -1263 A> G gene promoter for caspase 9. DNA extraction was performed from whole blood according to manufacture protocol. RFLP-PCR method was carrying out for detection of caspase 3 and 9 genes genotype in two groups.
Results: In this study, 143 men and 57 women were evaluated. All of them were selected from the same race and geographical area. The results indicated an increase of the mutant G allele in the control group, which leads to a decreasing in the incidence of gastric cancer (P<0.0001, OR: 0.096, (%0.95CL) =0.04-0.23).
Conclusion: It seems that screening of -1263 A> caspase 9 polymorphism could be a useful marker in personal sensitivity to gastric cancer and help to cancer treatment and prevention process. It is concluded that caspase gene variation may be a diagnostic factor in the gastric cancer.
Sara Rostami, Leila Kohan, Mohammad Mohammadian Panah, Fereshteh Fereiduni,
Volume 72, Issue 6 (9-2014)
Abstract
Background: Leptin is an adipokine made by fat cells and plays a key role in proliferation, cell survival, migration and immune response. Several studies have suggested that individuals with high serum leptin concentrations would increase the risk of breast cancer. G -2548A polymorphism in the leptin gene is located in the promoter region and is associated with the change of leptin serum level. In this study, the association between G -2548A polymorphism in leptin gene and breast cancer susceptibility was investigated.
Methods: This case-control study was done on 374 Iranian women. This study was performed from March 2013 to February 2013. Blood samples from 203 women with breast cancer and 171 age (±5)- matched healthy women were collected. Breast cancer patients were selected from Namazi Hospital in Shiraz city. Genomic DNA was extracted from blood samples. The G -2548A polymorphism of leptin gene was determined using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. Data analysis was performed by SPSS version 18. Logistic regression analysis was used for association of breast cancer susceptibility and G -2548A polymorphism of leptin gene.
Results: The A allele frequency was 60% in control group and 72% in breast cancer patients. There was a significant association between A allele in -2548 position of leptin gene and breast cancer susceptibility (OR: 1.8, 95% CI: 1.3-2.4, P<0.001). In the reces-sive effect of the A allele (comparison between AA vs. AG+GG), AA genotype in -2548 region of leptin promoter sequence was significantly increased the risk of breast cancer (OR=2.2, 95% CI: 1.5-3.4, P<0.001).
Conclusion: It is concluded that A allele in the -2548 promoter region of leptin gene may act as a recessive allele and increase the breast cancer risk.
Salva Sadat Mostafavi Dehraisi , Seyed Mehdi Sadat, Fatemeh Davari Tanha , Mohammad Reza Aghasadeghi Aghasadeghi, Mahdi Safarpour , Parinaz Abbasi Ranjbar, Ahmad Ebrahimi ,
Volume 72, Issue 8 (11-2014)
Abstract
Background: Uterine leiomyoma is one of the most common benign smooth muscle tumors occurring in 20-40% of women worldwide in their reproductive years. Recent studies revealed that estrogen plays an important role in the pathogenesis of this disease. Since glutathione S-transferase (GST) gene family are involved in the biosynthesis of estrogen, the prior probability that variants at this locus are associated with uterine leiomyoma is likely to be above the null. Therefore, this study was carried out to examine whether GSTP1 polymorphism (Ile105Val) is associated with increased risk of uterine leiomyoma in Iranian population.
Methods: In this case-control study, 50 women diagnosed with uterine leiomyoma and 50 healthy controls were recruited from subjects referred to the Pasteur Institute of Iran from November 2012 to September 2013. The genomic DNA was extracted from peripheral blood leucocytes using the standard phenol-chloroform method and subsequently the GSTP1 polymorphism was genotyped using amplification refractory mutation system-polymerase chain reaction (ARMS-PCR). Logistic regression analysis was applied to estimate odds ratios and 95% confidence intervals after age adjustment using the SPSS statistical software package, version 18.0.
Results: The results showed significant differences between case and control groups in terms of genotype frequency (P<0.0001). In addition, the results indicated that the presence of the valine allele significantly increased risk of uterine leiomyoma about three times more in individuals carrying the mutant allele compared to control group (Odds Ratio: 3.34 95%CI: 1.82-6.15 P<0.0001).
Conclusion: To our knowledge, this is the first study performed in Iranian population assessing the association between GSTP1 Ile105Val polymorphism and risk of uterine leiomyoma. However, further extensive studies with a large number of samples from different populations and ethnicities are required to validate the results obtained in this study.
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.
Salva Sadat Mostafavi Dehraisi, Seyed Mehdi Sadat , Fatemeh Davari Tanha, Mohammad Reza Aghasadeghi, Golnaz Bahramali , Mahdi Safarpour , Ahmad Ebrahimi ,
Volume 72, Issue 10 (1-2015)
Abstract
Background: Uterine myomas are benign tumors of the uterus and the most common solid pelvic tumors causing symptoms in approximately 25% of women in their reproductive years. However, its etiology and pathogenesis remain obscure there is increasing evidence that endometriosis is inherited as a complex genetic trait. Recent studies indicated the involvement of glutathione S-transferase M1 (GSTM1) gene in the pathogenesis of this disease and current investigations are devoted to the other members of phase II detoxification system genes such as glutathione S-transferase T1 (GSTT1). Therefore, current study was carried out to investigate the distribution of GSTM1 and GSTT1polymorphisms in Iranian population in order to estimate possible impact of null-alleles of each gene in development of this disease.
Methods: In this study, 50 patients with endometriosis diagnosed by both pathology and laparoscopic findings according to the revised American Fertility Society classification of endometriosis were recruited from subjects referred to the Pasteur Institute of Iran between November 2012 to September 2013. Accordingly, controls (n=50) were subjects without any of aforementioned gynecologic conditions. The genomic DNA was extracted from peripheral blood leucocytes using the salting out method and GSTM1 and GSTT1 genotyping for gene deletions were carried out using Gap-polymerase chain re-action. Logistic regression analysis was applied to assess whether there was any significant risk increase between the case group with higher null genotypes compared to control group. The level of statistical significance was set at 0.05 and all analyses were conducted using the SPSS version 18.0 (SPSS Inc., Chicago, IL).
Results: There was significant evidence that the distribution of the GSTM1 and GSTT1 genotypes differed between the patients and the controls with an allelic odds ratio (OR) of 3.56 (95%CI: 1.35-9.37, P=0.01) and 3.92 (95%CI: 1.4-10 P=0.009) respectively. Data analysis also revealed that individuals with both GSTM1 and GSTT1 null genotypes (-/-) had higher risk to develop the disease in comparison to the people with the both present (+/+) genotype (OR:19.23, P=0.007).
Conclusion: The findings suggest that the GSTM1 and GSTT1 genetic polymorphisms are associated with the development of endometriosis in Iranian women which is in agreement with previous results obtained in other populations. However, the ethnic variations of polymorphisms should be evaluated in detail and differences should be incorporated into investigations of susceptibility variants for this disease.
Reihaneh Asadi , Parisa Mohamadynejad , Fatemeh Davari Tanha , Mahdi Safarpour , Ahmad Ebrahimi ,
Volume 72, Issue 12 (3-2015)
Abstract
Background: The major issue to address in endometriosis etiology is to identify the genetic changes in the disease and their occurrence in different populations. Uncovering these genetic changes may be important in developing potential biomarkers for early diagnosis and prognosis of endometriosis. Among all endometriosis susceptibility genes studied before, convincing association has been found with variants in the estrogen receptor alpha (ESR1) gene and this disease however, the contributions of these genetic variants in different populations and ethnic groups are not similar. Accordingly, this study was carried out to replicate the previous findings to assess whether this polymorphism is associated with endometriosis in Iranian women.
Methods: A case-control study was designed to determine the possible association between ESR1-351A>G variant and occurrence of endometriosis. The study group consisted of 100 subjects diagnosed with endometriosis as case group and 100 fertile women without endometriosis as controls recruited from subjects referred to the Tehran Women’s General Hospital between January to September 2013. All subjects were genotyped for this marker using amplification refractory mutation system- polymerase chain reaction (ARMS-PCR). Association of risk allele (G) with endometriosis was as-sessed using PLINK software after age adjustment.
Results: The results showed that the genotype frequencies were in Hardy-Weinberg Equilibrium (HWE) in both case (F=0.04, P:0.67) and control (F=0.02, P:0.83) groups. In addition, there were no significant differences between case and control groups in terms of genotype frequencies (P=0.17). Moreover, the results indicated that the presence of risk allele (G) did not significantly increase risk of endometriosis (OR: 1.43, 95%CI: 0.96-2.13, P=0.07).
Conclusion: The results do not support the previous findings of an association between -351A>G genetic polymorphism in ESR1 gene and endometriosis. Therefore, comprehensive genetic approaches including linkage analyses and family-based tests, together with a number of replication studies with large sample size, are needed to make conclusive claims about the role of this genetic polymorphism in susceptibility to endometriosis.
Najmeh Jouyan , Babak Saffari , Elham Davoudi-Dehaghani, Negar Saliani , Sara Senemar , Marzieh Bahari , Neda Jouyan , Mohammad Ali Ostovan ,
Volume 72, Issue 12 (3-2015)
Abstract
Background: Polymorphisms of the upstream transcription factor 1 (USF1) have been associated with familial combined hyperlipidemia (FCHL), type 2 diabetes and coronary heart diseases (CHD). In the current investigation, the association of USF1s2 variant of human USF1 gene with premature coronary artery disease (PCAD) was evaluated in a population from southern Iran. USF1s2 has the best potential as a functional variant .in the USF1 gene.
Methods: In a case-control study USF1s2 variant of human USF1 gene was determined by polymerase chain reaction- restriction fragment length polymorphism (PCR-RFLP) technique using BsiHKA I restriction enzyme for 186 women under 55 years of age and 135 men less than 50 years of age who underwent diagnostic coronary angiography in Saadi, Nemazee and Kowsar Hospitals of Shiraz, between July 2009 and March 2012. Data on the history of familial myocardial infarction or other heart diseases, hypertension, and smoking habit were collected by a simple questionnaire. Blood sugar level and serum lipid profile of all participants were also obtained by measuring the levels of fasting blood sugar (FBS), total cholesterol (TC), triglycerides (TG), low density lipoprotein (LDL) and high-density lipoprotein cholesterol (HDL).
Results: Frequencies of the major (G) and minor (A) alleles of usf1s2 gene variant were 0.74 and 0.26 in the whole population, respectively. Meanwhile, the prevalence of the minor allele was significantly higher in PCAD patients compared with control subjects. This difference remained significant even after adjustment for confounding parameters. Indeed, subjects with mutant homozygous genotype (AA) were about 5 times more likely to suffer from early-onset CAD than those with wild-type homozygous genotype (GG). Moreover, the baseline characteristics of the control subjects and patients were statistically similar for almost all parameters except for the number of male individuals there was no significant difference among various genotypes in the patient group for any of these investigated variables.
Conclusion: It appears that the usf1s2 variant in upstream transcription factor 1 gene is an independent predictor of premature coronary artery disease in our population and applies its effects without affecting blood sugar and lipid levels.
