Association of BglII Polymorphism in ITGA2 and (894G/T and −786T/C) Polymorphisms in eNOS Gene With Stroke Susceptibility in Tunisian Patients α2 Gene Polymorphism in α2β1 Integrin and eNOS Gene Variants and Stroke

2020 ◽  
pp. 109980042097768
Author(s):  
Akrem Jalel ◽  
Fatma Midani ◽  
Sondess Hadj Fredj ◽  
Taieb Messaoud ◽  
Fayçal Hentati ◽  
...  
Keyword(s):  
Multiple Logistic Regression Analysis ◽  
Tunisian Population ◽  
Enos Gene ◽  
Genotype Distribution ◽  
Haplotype Estimation ◽  
Data Comparison ◽  
Pcr Rflp ◽  
Tunisian Patients ◽  
Integrin Gene ◽  
Α2β1 Integrin

Background: This study investigated the association of BglII polymorphism in α2β1 integrin gene ( ITGA2) and eNOS (894G/T and –786T/C) polymorphisms with ischemic stroke (IS) in Tunisian patients. Methods: The study comprised 210 patients with IS and 208 controls. The genotypes of the BglII polymorphism in ITGA2 and eNOS (894G/T and –786T/C) polymorphisms were determined using the PCR-RFLP. The χ2 test was used and the genotype data comparison included heterozygous groups. Haplotype estimation and multiple logistic regression analysis were performed to analyze the significance of polymorphisms. Results: The genotype distribution of the BglII polymorphism was significantly different between cases and controls ( p < 0.004). This polymorphism was associated with the risk of IS ( OR = 3.38, p < 0.001) for the BglII(+/+) genotype. Likewise, the genotype distributions of eNOS (894G/T and –786T/C) polymorphisms were significantly different between the two groups ( p < 0.005 and p < 0.01, respectively). The 894G/T polymorphism increased the risk of IS for the TT genotype ( OR = 2.23, p < 0.008) and the GT genotype ( OR = 1.74, p < 0.009). In addition, the –786T/C variant in the eNOS gene was a risk factor for IS for CC homozygous ( OR = 2.52, p < 0.005). T-C Haplotype ( OR = 3.06) from combination of the eNOS (894G/T and –786T/C) and T-C- BglII(+) haplotype ( OR = 2.76) from combination of eNOS and ITGA2 polymorphisms represented high risks for IS. Conclusions: This study suggests that the BglII variant in ITGA2 is associated with IS susceptibility. Furthermore, the 894G/T and –786T/C polymorphisms in the eNOS gene may be considered as genetic risk factors for IS in the Tunisian population.

Contribution of the ACE (rs1799752) and CYP11B2 (rs1799998) Gene Polymorphisms to Atrial Fibrillation in the Tunisian Population

2021 ◽  
pp. 109980042110293
Author(s):  
Ilhem Gouissem ◽  
Fatma Midani ◽  
Hayet Soualmia ◽  
Meryem Bouchemi ◽  
Sana Ouali ◽  
...  
Keyword(s):  
Atrial Fibrillation ◽  
Gene Polymorphisms ◽  
Tunisian Population ◽  
Genotype Distribution ◽  
Confounding Factors ◽  
Pcr Rflp ◽  
Study Population ◽  
Polymerase Chain ◽  
And Control ◽  
T Haplotype

Background: This study investigated the association of angiotensin–converting enzyme (ACE I/D) and aldosterone synthase (CYP11B2-344C/T) gene polymorphisms in the renin–angiotensin–aldosterone system (RAAS) with atrial fibrillation (AF) in the Tunisian population. Materials and Methods: The study population included 120 patients with AF and 123 age-matched controls. Genotyping of the I/D polymorphism in the ACE gene and the -344C/T polymorphism in the CYP11B2 gene was performed by polymerase chain reaction (PCR) and PCR-RFLP methods, respectively. Results: The genotype distribution of the ACE I/D and CYP11B2-344C/T polymorphisms was significantly different between AF patients and control participants ( p < 0.01 and p < 0.006 respectively). In addition, ACE I/D increased the risk of AF significantly by 3.41-fold for the DD genotype (OR = 3.41; 95% CI [1.39–8.34]; p < 0.007), and after adjusting for confounding factors (age, diabetes, hypertension, and dyslipidemia), the risk was higher (OR = 5.71; 95% CI [1.48–21.98]; p < 0.01). Likewise, the CYP11B2-344C/T polymorphism increased the incidence of AF for the TT genotype (OR = 3.66; 95% CI [1.62–8.27]; p < 0.002) and the CT genotype (OR = 2.68; 95% CI [1.22–5.86]; p < 0.01). After adjusting for confounding factors (age, diabetes, hypertension and dyslipidemia), the risk remained higher for the TT genotype (OR = 3.58; 95% CI [1.08–11.77]; p < 0.03). Furthermore, the haplotype–based association of the ACE I/D and CYP11B2-344C/T polymorphisms showed that the D-T haplotype increased the risk for AF. Conclusion: Our study suggests a significant association of the ACE (I/D) and CYP11B2-344C/T polymorphisms with AF in the Tunisian population.

PCR-RFLP Detection od PAI-2 Gene Variants: Prevelence in Ethnic Groups and Disease Relationship in patients Undergoing corony Angiography

1997 ◽  
Vol 77 (05) ◽  
pp. 0955-0958 ◽  
Author(s):  
Carole A Foy ◽  
Peter J Grant
Keyword(s):  
Gene Variants ◽  
Genotype Distribution ◽  
Pima Indians ◽  
Significant Difference ◽  
Pcr Rflp ◽  
History Of ◽  
Caucasian Patients ◽  
Clinical Conditions ◽  
Rflp Assay ◽  
Coronary Atheroma

SummaryPAI-2 is a fibrinolytic inhibitor produced predominantly by monocytes. Most PAI-2 is intracellular making study in clinical conditions difficult. Abnormalities in production may be associated with inflammation and fibrinolysis at sites of tissue damage such as the atherosclerotic plaque.PAI-2 gene variants have been described: variant A consists of Asn120, Asn404 and Ser413 and variant B consists of Asp120, Lys404 and Cys413. We designed a PCR-RFLP assay using primers spanning the region containing Asn/Lys404 and Ser/Cys413. Variant B contains an Mwol restriction site. We analysed 302 Pima Indians and 286 healthy Caucasian volunteers. To investigate relationships between genotype and vascular disease we analysed 333 Caucasian patients undergoing coronary angiography.Gene variant B was more common in the Pimas than in Caucasians (p <0.0001). There was no significant difference in genotype distribution between the volunteers and patients. In the patients there was no association between genotype and either a history of MI or extent of coronary atheroma.

scholarly journals Hyperhomocysteinemia, Endothelial Nitric Oxide Synthase Polymorphism, and Risk of Coronary Artery Disease

2006 ◽  
Vol 52 (1) ◽  
pp. 53-58 ◽  
Author(s):  
Mohsen Kerkeni ◽  
Faouzi Addad ◽  
Maryline Chauffert ◽  
Anne Myara ◽  
Mohamed Ben Farhat ◽  
...  
Keyword(s):  
Nitric Oxide ◽  
Coronary Artery Disease ◽  
Coronary Artery ◽  
Endothelial Nitric Oxide Synthase ◽  
Tunisian Population ◽  
Enos Gene ◽  
Artery Disease ◽  
Oxide Synthase ◽  
Endothelial Nitric Oxide ◽  
G894t Polymorphism

Abstract Background: Hyperhomocysteinemia is an independent, graded risk factor for coronary artery disease (CAD). The G894T variant of endothelial nitric oxide synthase (eNOS) was postulated to be associated with hyperhomocysteinemia and could influence individual susceptibility to CAD. The aims of this study were to investigate (a) the relationship of the eNOS G894T polymorphism with the presence and the severity of CAD and (b) the possible relationship between hyperhomocysteinemia and the eNOS G894T variant for the risk of CAD severity in a Tunisian population. Methods: We used PCR with restriction fragment length polymorphism analysis to detect the G894T variant of the eNOS gene in 100 patients with CAD and 120 healthy controls. The severity of CAD was expressed by the number of affected vessels. Total plasma homocysteine concentrations were determined by direct chemiluminescence assay. Results: The frequencies of the eNOS GG, GT, and TT genotypes in the CAD group were significantly different from those in the control group (45%, 44%, and 11% vs 60%, 35.8% and 4.2%, respectively; P = 0.035). There was no association between the eNOS G894T genotype frequencies and the number of stenosed vessels (P = 0.149). In the CAD group, the coexistence of the 894 GT or TT genotypes and hyperhomocysteinemia led to an increased risk of CAD severity. Conclusion: The G894T polymorphism of the eNOS gene is associated with the presence of CAD, and in conjunction with hyperhomocysteinemia, increased the risk of CAD severity in a Tunisian population.

scholarly journals MDR1 polymorphisms are not related to Xeliri and Xelox chemoresistance in colorectal cancer

2019 ◽  
Author(s):  
Ayat B. Al-Ghafari ◽  
Areej M. Alqahtani ◽  
Suzan N. Alturki ◽  
Huda Abdulaziz Al Doghaither ◽  
Hanaa M. Tashkandi ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Drug Response ◽  
Fragment Length Polymorphism ◽  
Protective Role ◽  
Genotype Distribution ◽  
Chain Reaction ◽  
P Glycoprotein ◽  
Significant Difference ◽  
Pcr Rflp ◽  
Polymerase Chain

Abstract Background Multidrug resistance member 1 (MDR1) is located on chromosome 7 and encodes P-glycoprotein (Pgp), which is universally accepted as a drug resistance biomarker. MDR1 polymorphisms may change either the protein expression or function, suggesting its possible association with cancers, including colorectal cancer (CRC). Thus, this study aimed to determine the effects of MDR1 polymorphisms on the drug response of Saudi CRC patients.Methods DNA samples were obtained from 62 CRC patients and 100 healthy controls. The genotypes and allele frequencies of the MDR1 polymorphisms G2677T and T1236C were determined by polymerase chain reaction–restriction fragment length polymorphism (PCR-RFLP).Results No significant difference was observed in the genotype distribution and allele frequency of T1236C between the CRC the patients and the controls. However, G2677T was found to play a highly significant protective role against the progression of CRC. Moreover, the results showed that none of the genotypes in SNPs T1236C and G2677T affected chemoresistance to Xeliri and Xelox.Conclusions T1236C in the MDR1 gene is not related to CRC risk, and G2677T protects against the development of CRC. Both MDR1 polymorphisms are not associated with the risk of chemoresistance.

CAT-21 A/T Gene Polymorphisms Associated with Breast Cancer Susceptibility

2021 ◽  
Vol 32 (2) ◽  
pp. 79-84
Author(s):  
Kevin Owen ◽  
Siti Syarifah ◽  
Mutiara Indah Sari
Keyword(s):  
Breast Cancer ◽  
Oxidative Stress ◽  
Cancer Susceptibility ◽  
Breast Cancer Susceptibility ◽  
Healthy Control Group ◽  
Control Group ◽  
Genotype Distribution ◽  
Significant Difference ◽  
Pcr Rflp ◽  
Healthy Control

Background: Oxidative stress induced cancer cell formation. Gene polymorphism plays roles in carcinogen metabolism, antioxidant and DNA repairing pathway was susceptibility to oxidative stress. This study aim to determine the association between CAT-21 A/T polymorphism with breast cancer susceptibility. Methods: Case control study was conducted on 65 breast cancer patient and 65 healthy control group. The whole blood samples were isolated from 65 breast cancer patients in Haji Adam Malik General Hospital Medan and 65 healthy control group. The CAT-21A/T polymorphism was analyzed by PCR-RFLP procedure. PCR-RFLP product was electrophoresed and visualized in agarose 4%. Results:The AA CAT-21 genotype were lower in breast cancer (BC) than healthy control (HC) group (31/47.7% vs 40/61.5%), in the contrary AT+TT genotype was greater in BC than HC group (34/52.3% vs 25/38.5%) with (p=0.159, OR=1.755, CI=0.874–3.525). A allele CAT-21 were found lower in BC than HC group (89/68.5% vs 105/80.8%) then T allele were greater in BC than HC group (41/31.5% vs 25/19.2%) with (p=0.033, OR=1.935;CI=1.022-3.428). Conclusions: There was significant difference in allele distribution of CAT-21 A/T between case and control group but no in genotype distribution. In this population study showed that allele of CAT -21 A/T polymorphism could represent as a risk factor to breast cancer. Bangladesh J Medicine July 2021; 32(2) : 79-84

scholarly journals Genetic Analysis of TREM2 Variants in Tunisian Patients with Alzheimer's Disease

2018 ◽  
Vol 27 (4) ◽  
pp. 317-322 ◽  
Author(s):  
Zied Landoulsi ◽  
Mouna Ben Djebara ◽  
Imen Kacem ◽  
Youssef Sidhom ◽  
Rym Kefi ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Rare Variants ◽  
Late Onset ◽  
Tunisian Population ◽  
Fisher Exact Test ◽  
Exon 2 ◽  
Exact Test ◽  
Tunisian Patients ◽  
Synonymous Variant

Objective: Rare variants in the TREM2 gene have been reported to significantly increase the risk of Alzheimer’s disease in Caucasian populations. Hitherto, this association was not studied in North African populations. In this work, we aimed to study the association between TREM2 exon 2 variants and the risk of late-onset Alzheimer’s disease (LOAD) in a Tunisian population. Subjects and Methods: We sequenced exon 2 of TREM2 in a Tunisian cohort of 172 LOAD patients and 158 control subjects. We used the Fisher exact test to compare the distribution of allelic frequencies between the two groups. Results: We identified 4 previously reported nonsynonymous variants (p.Asp39Glu, p.Arg62His, p.Thr96Lys, and p.Val126Gly) and 1 novel synonymous variant (p.Gln109Gln), none of which was significantly associated with the risk of Alzheimer’s disease. Moreover, the rare TREM2 variant (p.Arg47His), which was considered to be a risk factor for Alzheimer’s disease in European descent populations, was not detected in our cohort. Conclusion: These findings do not support a major role for TREM2 in the pathogenesis of LOAD in the Tunisian population.

scholarly journals Binding of Phosphorylated Sp1 Protein to Tandem Sp1 Binding Sites Regulates α2 Integrin Gene Core Promoter Activity

Blood ◽  
1997 ◽  
Vol 90 (2) ◽  
pp. 678-689 ◽  
Author(s):  
Mary M. Zutter ◽  
Ellen E. Ryan ◽  
Audrey D. Painter
Keyword(s):  
Complex Formation ◽  
Protein Complex ◽  
Binding Sites ◽  
Promoter Activity ◽  
Core Promoter ◽  
K562 Cells ◽  
The Core ◽  
Nuclear Extracts ◽  
Integrin Gene ◽  
Α2β1 Integrin

Abstract The α2β1 integrin, a collagen/laminin receptor, is expressed by a variety of cell types, including epithelial cells, mesenchymal cells, and hematopoietic cells. To understand the molecular mechanisms that regulate expression of the α2β1 integrin in cells with megakaryocytic differentiation, we characterized the 5′ flanking region of the α2 integrin gene and identified three distinct regulatory regions, including a core promoter, a silencer, and megakaryocyte enhancers in the distal 5′ flank (Zutter et al, Blood 96:3006, 1995 and Zutter et al, J Biol Chem 269:463, 1994). We now focus on the core promoter of the α2 integrin gene located between bp −30 and −92 that is required for transcriptional activity of the α2 integrin gene. Sequence analysis identified two Sp1 consensus sites and a potential AP2 site. Gel retardation assays showed that nuclear proteins from uninduced K562 cells and K562 cells induced to become megakaryocytic bound specifically to the core promoter region (bp −30 to bp −92) producing two DNA-protein complexes. In addition, nuclear extracts from cells induced along the megakaryocyte lineage produced a selective increase in the slower migrating complex. Site-directed mutagenesis of the 5′, the 3′, or both Sp1 binding sites suggested that both Sp1 binding sites are required for full promoter activity and for DNA-protein complex formation. DNA footprinting also showed specific protection of the 5′ Sp1 site by nuclear extracts from uninduced K562 cells and protection of both the 5′ and the 3′ Sp1 sites by nuclear extracts from induced K562 cells. Sp1 protein-DNA complex formation was dependent on Sp1 phosphorylation. The faster migrating DNA-protein complex was enhanced by dephosphorylation; the slower migrating DNA-protein complex was diminished or lost.

scholarly journals Association of Interaction Between Smoking and CYP 2C19*3 Polymorphism With Coronary Artery Disease in a Uighur Population

2010 ◽  
Vol 16 (5) ◽  
pp. 579-583 ◽  
Author(s):  
Yi-Ning Yang ◽  
Xin-Lei Wang ◽  
Yi-Tong Ma ◽  
Xiang Xie ◽  
Zhen-Yan Fu ◽  
...  
Keyword(s):  
Coronary Artery Disease ◽  
Coronary Artery ◽  
Vascular Inflammation ◽  
Multiple Logistic Regression Analysis ◽  
Rflp Analysis ◽  
Biologically Active ◽  
Pcr Rflp ◽  
Cyp2c19 Gene ◽  
Independent Risk Factors ◽  
Artery Disease

Objectives: Cytochrome P450 (CYP) 2C19 is expressed in vascular endothelium and metabolizes arachidonic acid to biologically active epoxyeicosatrienoic acids (EETs), which are potent endogenous vasodilators and inhibitors of vascular inflammation. The purpose of this study is to explore the relationship between the interaction of CYP2C19*3 polymorphism and smoking and coronary artery disease (CAD) in a Uighur population. Methods: In a Chinese Uighur case-control study of patients with CAD (n = 336) and healthy controls (n = 370), we investigated the roles of polymorphism in the CYP2C19 gene by the use of polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) analysis. Results: The CYP2C19*3 AG + AA genotype was significantly more prevalent in patients with CAD (6.25.0% vs 2.96%; P = .03). Multiple logistic regression analysis showed 4 independent risk factors: the interaction of CYP2C19*3 and smoking (OR 7.22, 95% confidence interval [CI] 2.32-10.23; P = .009), smoking (OR 3.23, 95% CI 1.72-5.44; P = .003), blood sugar (OR 2.12, 95% CI 1.03-4.21; P < .01), and hypertension (OR 1.74, 95% CI 0.98-2.34; P = .013). Conclusions: The CYP2C19*3 polymorphism and CAD were synergistically and significantly associated in Chinese Uighur patients.

Binding of Phosphorylated Sp1 Protein to Tandem Sp1 Binding Sites Regulates α2 Integrin Gene Core Promoter Activity

Blood ◽  
1997 ◽  
Vol 90 (2) ◽  
pp. 678-689 ◽  
Author(s):  
Mary M. Zutter ◽  
Ellen E. Ryan ◽  
Audrey D. Painter
Keyword(s):  
Complex Formation ◽  
Protein Complex ◽  
Binding Sites ◽  
Promoter Activity ◽  
Core Promoter ◽  
K562 Cells ◽  
The Core ◽  
Nuclear Extracts ◽  
Integrin Gene ◽  
Α2β1 Integrin

The α2β1 integrin, a collagen/laminin receptor, is expressed by a variety of cell types, including epithelial cells, mesenchymal cells, and hematopoietic cells. To understand the molecular mechanisms that regulate expression of the α2β1 integrin in cells with megakaryocytic differentiation, we characterized the 5′ flanking region of the α2 integrin gene and identified three distinct regulatory regions, including a core promoter, a silencer, and megakaryocyte enhancers in the distal 5′ flank (Zutter et al, Blood 96:3006, 1995 and Zutter et al, J Biol Chem 269:463, 1994). We now focus on the core promoter of the α2 integrin gene located between bp −30 and −92 that is required for transcriptional activity of the α2 integrin gene. Sequence analysis identified two Sp1 consensus sites and a potential AP2 site. Gel retardation assays showed that nuclear proteins from uninduced K562 cells and K562 cells induced to become megakaryocytic bound specifically to the core promoter region (bp −30 to bp −92) producing two DNA-protein complexes. In addition, nuclear extracts from cells induced along the megakaryocyte lineage produced a selective increase in the slower migrating complex. Site-directed mutagenesis of the 5′, the 3′, or both Sp1 binding sites suggested that both Sp1 binding sites are required for full promoter activity and for DNA-protein complex formation. DNA footprinting also showed specific protection of the 5′ Sp1 site by nuclear extracts from uninduced K562 cells and protection of both the 5′ and the 3′ Sp1 sites by nuclear extracts from induced K562 cells. Sp1 protein-DNA complex formation was dependent on Sp1 phosphorylation. The faster migrating DNA-protein complex was enhanced by dephosphorylation; the slower migrating DNA-protein complex was diminished or lost.

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