scholarly journals Genotyping of IL-4 −590 (C>T) Gene in Iraqi Asthma Patients

2017 ◽  
Vol 2017 ◽  
pp. 1-5 ◽  
Author(s):  
Ihsan A. Hussein ◽  
Saddam H. Jaber

This study is the first investigation in Iraq dealing with genotyping of IL-4 −590 (C>T) gene, especially in Iraqi patients with asthma. We studied forty-eight blood samples collected from patients with asthma and compared with age-matched 25 healthy individuals as controls. The polymorphism results of IL-4 −590 (C>T) gene by using amplification refractory mutation system (ARMS-PCR) showed the presence of C and T alleles and three genotypes (CC, CT, and TT). Interestingly the frequency of C allele and CC genotype was higher in patients with asthma in comparison with the same allele and genotype in control (P 1 × 10−6). This increase was associated with an increased risk factor of asthma (odds ratio [OR] 9.21; 95% confidence interval [CI] 3.58–23.71). Genotypes analysis by using Hardy-Weinberg distribution showed no significant differences between patients with asthma and healthy subjects. In conclusion, the increasing risk of asthma was associated with C allele and the CC genotype and these are revealed as etiological fraction with risk by having this disease, while the T allele percentage ratio in controls was higher when it is compared with asthma patients suggesting that these alleles have a protective effect (preventive fraction).

2021 ◽  
pp. 39-39
Author(s):  
Atefeh Najafian-Najafabady ◽  
Nasim Ebrahimi ◽  
Sadeq Vallian

The presence of single nucleotide variations in the coding region of micro-RNA (miRNA)- encoding genes plays a significant role in the expression and function of these molecules in oncogenesis and cancer. The association of rs2682818 in miR-618 with increased risk of breast cancer was investigated in the Iranian population. rs2682818/miR-618 was genotyped using amplification-refractory mutation system PCR (ARMS-PCR) in 200 healthy individuals and patients with breast cancer. The data revealed the presence of Hardy-Weinberg equilibrium (HWE) for this marker. The frequency of alleles C and A was 70% and 30%, respectively, in healthy individuals; the frequency of alleles C and A was 44% and 56%, respectively, in patients with breast cancer. Analysis of odd ratios showed that the rs2682818/miR-618 polymorphism is associated with increased probability of breast cancer and is statistically significant (OR=2.97, P=0.0003). The data suggest that rs2682818/miR-618 could be considered a novel marker of increased risk of breast cancer.


Author(s):  
Reza Zare-Feyzabadi ◽  
Majid Mozaffari ◽  
Majid Ghayour-Mobarhan ◽  
Mohsen Valizadeh

Background: Metabolic Syndrome (MetS) is defined by a clustering of metabolic abnormalities associated with an increased risk of cardiovascular disease and type 2 diabetes mellitus. There has been an increasing interest in the associations of genetic variants involved in diabetes and obesity in the FABP1 pathway. The relationship between the rs2241883 polymorphism of FABP1 and risk of MetS remains unclear. Objective: We aimed to examine the association between this genetic polymorphism and the presence of MetS and its constituent factors. Methods: A total of 942 participants were recruited as part of the Mashhad Stroke and Heart Atherosclerosis Disorders (MASHAD study) Cohort. Patients with MetS were identified using the International Diabetes Federation (IDF) criteria (n=406) and those without MetS (n=536) were also recruited. DNA was extracted from peripheral blood samples and used for genotyping of the FABP1 rs2241883T/C polymorphism using Tetra-Amplification Refractory Mutation System Polymerase Chain Reaction (Tetra-ARMS PCR). Genetic analysis was confirmed by gel electrophoresis and DNA sequencing. Results: Using both univariate and multivariate analyses after adjusting for age, sex and physical activity, carriers of C allele (CT/CC genotypes) in FABP1 variant were related to an increased risk of MetS, compared to non-carriers (OR: 1.38, 95%CI: 1.04,1.82, p=0.026). Conclusion: The present study shows that C allele in the FABP1 variant can be associated with an increased risk of MetS. The evaluation of these factors in a larger population may help further confirm these findings.


Author(s):  
Saman SARGAZI ◽  
Milad HEIDARI NIA ◽  
Shekoufeh MIRINEJAD ◽  
Mahdiyeh MOUDI ◽  
Mahdiyeh JAFARI SHAHROUDI ◽  
...  

Background: KIF26B gene is found to play essential roles in regulating different aspects of cell proliferation and development of the nervous system. We aimed to determine if rs12407427 T/C polymorphism could affect susceptibility to schizophrenia (SZN) and breast cancer (BC), the two genetically correlated diseases. Methods: The current case-control study was performed from Aug 2018 to Dec 2018. Briefly, 159 female pathologically confirmed BC cases referring to Alzahra Hospital, Isfahan, Iran, and 102 psychologically confirmed SZN patients (60 males and 42 females) admitted to Baharan Hospital, Zahedan, Iran, were enrolled. Using the salting-out method, genomic DNA was extracted, and variants were genotyped using allele-specific amplification refractory mutation system polymerase chain reaction (ARMS-PCR) method. Results: The results revealed a significant association between the KIF26B rs12407427 codominant CT (P=0.001), CC (P=0.0001), dominant CT+CC, and recessive CC (P=0.001) genotypes with the risk of developing SZN. Significant correlations were also found regarding rs12407427 and BC susceptibility in different inheritance models, including over-dominant CT (P=0.026), dominant CT+CC (P=0.001), recessive CC (P=0.009), and codominant CT and CC (P=0.001) genotypes. The over-presence of the C allele was also correlated with an increased risk for SZN (P=0.0001) and BC (P=0.0001). Finally, computational analysis predicted that T/C variation in this polymorphism could change the binding sites in proteins involved in splicing. Conclusion: rs12407427 T/C as a de novo KIF26B variant might be a novel genetic biomarker for SZN and/or BC susceptibility in a sample of the Iranian population.


2016 ◽  
Vol 24 (4) ◽  
pp. 423-430 ◽  
Author(s):  
Ramin Saravani ◽  
Zahra Irani ◽  
Hamid Reza Galavi

Abstract Type 2 diabetes (T2D) is a chronic disorder with different genetics and environmental factors. It is one of growing diseases in the world. Previous studies show association between Transcription Factor 7 Like2 (TCF7L2) and T2D. The current study set to evaluate the relation between TCF7L2 polymorphisms and T2D in Southeast Iran. The present case-control study was done on 250 T2D and 250 healthy controls (HCs). For genotyping polymorphisms TCF7L2 (rs11196205) and (rs4132670) Amplification-Refractory Mutation System-Polymers Chain Reaction (ARMS-PCR) was used. The results showed frequency rates of GC and CC genotypes increased in patients compared to controls (31% vs. 6% and 55% vs. 8%, respectively), showing a statistically significant difference (OR=2.67(1.37-5.21), P<0.05 and OR=3.31(1.92-5.71), P< 0.05, respectively). The C allele was associated with an increased risk of T2D, with the frequency of 28% and 11% in patients and controls, respectively (OR=3.11 (2.22-4.37), P< 0.05). Another Polymorphism of this gene TCF7L2 (rs4132670) was not associated with T2D. Furthermore, the haplotype analysis revealed that rs11196205C/rs4132670C and rs11196205C/rs4132670T are risk factors against T2D (OR=2.08 (1.49-2.86, P<0.05 and OR=1.72 (1.06-2.78) P<0.05, respectively). The findings demonstrated that TCF7L2 (rs11196205) genotypes GC, CC, and allele (C) confer risk for susceptibility to T2D.


2019 ◽  
Vol 47 (9) ◽  
pp. 1405-1408
Author(s):  
Hemin Lee ◽  
Yinzhu Jin ◽  
Jun Liu ◽  
Ezra M. Cohen ◽  
Sarah K. Chen ◽  
...  

Objective.To examine the risk of type 1 diabetes (T1D) associated with juvenile idiopathic arthritis (JIA).Methods.Using the IBM MarketScan database, we compared JIA patients with asthma patients and healthy individuals for the risk of incident T1D.Results.We included patients with 15,210 JIA, 76,050 patients with asthma, and 76,050 healthy individuals matched 1:5 on age, sex, and index date. After adjustment for confounders, the multivariable HR of T1D associated with JIA was 1.48 (95% CI 0.86–2.56) versus asthma and 1.81 (95% CI 1.03–3.17) versus healthy individuals.Conclusion.JIA appears to be associated with an increased risk of T1D compared to patients with asthma and healthy children.


2020 ◽  
Vol 10 (1) ◽  
Author(s):  
Francisco Torres-Bondia ◽  
Farida Dakterzada ◽  
Leonardo Galván ◽  
Miquel Buti ◽  
Gaston Besanson ◽  
...  

AbstractProton pump inhibitors (PPIs) are among the most prescribed medications. Previous epidemiological studies have presented contradictory results about PPIs and the risk of dementia. Our objective was to investigate the association between the use of PPIs and an increasing risk of incident AD or non-AD dementias. A community-based retrospective cohort study was conducted based on the data available from 1st January 2002 to 31st December 2015 in the Catalan health service (CatSalut) system. This cohort included all PPI users (N = 36,360) and non-users (N = 99,362). A lag window of 5 years was considered between the beginning of the PPI treatment and the diagnosis of dementia. PPI use was not associated with the risk of AD (adjusted odds ratio (OR) 1.06) (95% CI 0.93–1.21; p = 0.408). A weakly but significantly increased risk of non-AD dementias was observed among PPI users (adjusted OR 1.20, 95% CI 1.05–1.37; p = 0.007). A higher dose of PPIs was not associated with an increased risk of either AD or non-AD dementias (OR 1.20; 95% CI 0.91–1.61 and OR 0.95; 95% CI 0.74–1.22, respectively). Regarding the number of PPIs used, we observed an increased risk of AD (OR 1.47; 95% CI 1.18–1.83) and non-AD dementias (OR 1.38; 95% CI 1.12–1.70) in users of two types of PPIs compared with those who used only one type. We did not find a higher incidence of AD among PPI users, but a weak increase in the risk of non-AD dementias among PPI users was observed.


2020 ◽  
Vol 09 (03) ◽  
pp. 164-170
Author(s):  
Mohammad Al-Haggar ◽  
Engy Osman ◽  
Abdel-Rahman Eid ◽  
Tarek Barakat ◽  
Samar El-Morsi

AbstractCystic fibrosis (CF) is panethnic autosomal recessive disease that affects the exocrine glands of pancreas, lungs, and intestine. It is often misdiagnosed in developing countries as difficult-to-treat asthma. We enrolled 150 Egyptian families with one or more probands who were complaining of difficult-to-treat asthma, and 112 cases were studied extensively through history taking including pedigree construction and clinical examination. In addition, spirometry and computed tomography of the chest were done in selected cases. All cases were subjected to quantitative sweat chloride test and molecular screening for the three most common mutations of cystic fibrosis transconductance regulator (CFTR) gene (ΔF508, G542X, W1282X) using amplification refractory mutation system (ARMS) technique. Probands of difficult-to-treat asthma comprised 66 males and 46 females; their age range was 1 to 14 years. Sixty-one probands (54.5%) were carriers of one or more of the studied mutations (36 cases and 25 carriers). Six carriers of single mutations had mild respiratory symptoms and negative sweat test. The most common allele was ΔF508, 60 alleles in 56 individuals (4 were homozygous ΔF508/ΔF508) followed by W1282X in 25 individuals and G542X in 12 individuals. Allele W1282X had an increased risk of recurrent chest infection and bronchiectasis. Moreover, cases with two mutations had more severe symptoms compared with those with a single mutation. CFTR mutations and CF-related syndromes are not rare as thought in Egypt, especially among the high-risk difficult-to-treat asthma. The readily available ARMS technique is recommended for ΔF508 and/or W1282X screening on priority basis among these children.


2020 ◽  
Vol 8 (2) ◽  
pp. 32-37
Author(s):  
Najma Zehra

OBJECTIVES To estimate the probability of migraine among cervical radiculopathy patients by using odds ratio. STUDY SETTINGS & PARTICIPANTS This study was carried out at two tertiary care hospitals of Karachi, Out-Patient Department (OPD) of Rehabilitation Sciences, Ziauddin Hospital North and Liaquat National Hospital. METHOD Cross-sectional study was performed on participants aged between 25 to 45 years with both diagnosed and undiagnosed cervical radiculopathy to estimate the risk of migraine in comparison to healthy individuals. The characteristics features of migraine were assessed on migraine assessment scale while odds ratio was calculated to determine the odds. RESULTS The patients with CR are at higher risk for developing migraine as compared to the healthy individuals (odds ratio 1.2, 95% confidence interval. CONCLUSIONS The study concluded that patients cervical radiculopathy have increased risk of migraine. Therefore, evaluation of the condition in cervical radiculopathy patients for assessing the susceptibility for migraine is crucial for the effective management of migraine.


2016 ◽  
Vol 88 (9) ◽  
pp. 50-54 ◽  
Author(s):  
O Yu Bushueva ◽  
V P Ivanov ◽  
V N Ryzhaeva ◽  
I V Ponomarenko ◽  
M I Churnosov ◽  
...  

Aim. To investigate whether the functionally relevant -844G>A promotor polymorphism in the catalase (CAT) gene is associated with the development of essential hypertension (EH). Subjects and methods. The investigation enrolled 2,339 unrelated ethnic Russian people, including 1,269 EH patients and 770 apparently healthy individuals. Genotyping of CAT -844G>A (rs769214) polymorphism was performed using a TaqMan real-time polymerase chain reaction assay. Results. The -844A allele (odds ratio (OR)=1.31; 95% confidence interval (CI), 1.04 to 1.64; р=0.02) and the -844AA genotype (OR=1.41; 95% CI, 1.02 to 1.94; р=0.03) were found to be related to a higher risk of EH in the smokers. No association was found between this polymorphism and EH risk in the non-smokers. Conclusion. Smoking is a predisposing factor for development of EH in CAT -844AA genotype carriers.


2020 ◽  
Vol 12 (4) ◽  
pp. 303-306
Author(s):  
Najmeh Ramezanpour ◽  
Mahboobeh Nasiri ◽  
Omid Reza Akbarpour

Introduction: Myocardial infarction (MI) is the leading cause of death all over the world. The pivotal roles of Phospholipase C like 2 gene (PLCL2) in calcium homeostasis and immune responses make this gene as a potential candidate for its role in MI pathogenesis. The present study was undertaken to investigate whether rs4618210A>G polymorphism in PLCL2 gene contribute to MI etiology. Methods: A hospital-based case-control study with 600 subjects, including 300 MI patients and 300controls, was conducted. Genotyping of PLCL2 rs4618210 polymorphism was performed using amplification refractory mutation system-polymerase chain reaction (ARMS PCR) method. Data were analyzed using logistic regression analysis. Results: No significant association was found between the PLCL2 rs4618210 alleles and MI risk.However, a significantly increased risk of MI was observed among carriers of the AG genotype (OR= 1.91; 95% CI = 1.24 - 2.93; P = 0.003) compared with AA homozygote. In a dominant mode of inheritance for G allele (GG + AG vs. AA), the frequency of the carriers of at least one G allele was higher in cases compared to controls (OR= 1.56; 95% CI: 1.03 – 2.36; P = 0.037). Conclusion: Our study provided further evidence that PLCL2 gene polymorphism may serve as a prognostic marker for MI.


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