&lt;i&gt;Bgl II&lt;/i&gt; Polymorhism of the α2β1 Integrin Gene in Macedonian Population

Pavkovic, Marica; Petlichkovski, Aleksandar; Stojanović, Aleksandar; Trajkov, Dejan; Спироски, Мирко

doi:10.3889/mjms.1857-5773.2010.0096

Cited by 4 publications

(6 citation statements)

References 18 publications

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“…Therefore, they suggested that patients with BglII (+/-, +/+) genotypes might benefit from anti-platelet therapies. Similarly, Pavkovic et al [19] studied polymorphism in GP Ia gene and suggested an association with the variations in platelet α2β1 expression levels. They suggested that platelets from individuals with 807T allele have higher levels of α2β1 integrins as compared to individuals of 807C allele.…”

Section: Group-i Group-iimentioning

confidence: 94%

“…Variation in platelet GP density becomes a risk factor for haemostatic abnormalities [17] and this platelet α2β1 density is genetically determined [18]. Hereditary variation in platelet level of α2β1 integrin is defined by the existence of multiple alleles of α2 gene therefore it could have a significant impact on platelet function, contributing to an increased risk of thrombosis or bleeding in relevant disease states [19]. The same polymorphism has been studied by Matsubara et al [20] and Shi et al [21] in Japanese and Suzhou Han population respectively.…”

Section: Introductionmentioning

confidence: 99%

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Association of Alpha-2 Beta-1 Integrin Polymorphism with Retinopathy in Diabetic Patients

Afzal¹

2012

J Diabetes Metab

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Aim: Diabetes mellitus (DM) is a health concern because it leads to complications such as retinopathy and nephropathy. Pakistan has 6.9 million DM affected people that will be doubled by 2025. A study was designed to determine the role of genetics in diabetic retinopathy in Pakistani type 2 diabetes mellitus (T2DM) patients. Material and methods: It was a cross-sectional case-control study that included 236 subjects, divided into Group I (54 volunteers without diabetes), Group II (30 T2DM patients without retinopathy) and Group III (152 T2DM patients with retinopathy). A BglII polymorphism of α2β1 integrin gene was genotyped in all these individuals by using RFLP method. Results: The frequency of BglII polymorphism (++ and +-) genotypes was found significantly different between group I and group III individuals. Conclusion: BglII (+/+, +/-) genotypes, gender of subject, age at the onset of diabetes, and duration of diabetes is associated with development of diabetic retinopathy in Pakistani T2DM patients.

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Section: Group-i Group-iimentioning

confidence: 94%

Section: Introductionmentioning

confidence: 99%

Association of Alpha-2 Beta-1 Integrin Polymorphism with Retinopathy in Diabetic Patients

Afzal¹

2012

J Diabetes Metab

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“…Wide variations in pathopysiological processes involved in the density of a platelet collagen receptor (α 2 β 1 integrin or glycoprotein Ia/IIa) are reportedly associated with polymorphisms in the gene encoding the α subunit at the receptor 9. The aim of the study was to determine the relationship between the G894T polymorphism of the eNOS gene and the BgI II polymorphism of the ITGA2 gene and susceptibility to DR and to determine whether their genetic variants will affect the type of retinopathy.…”

Section: Introductionmentioning

confidence: 99%

Association analysis of genetic variations of eNOS and α2ß1 integrin genes with type 2 diabetic retinopathy

Azmy¹,

Kilany²,

Elghobashy³

et al. 2012

TACG

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BackgroundDiabetic retinopathy (DR) is classically defined as a microvasculopathy that primarily affects the small blood vessels of the inner retina as a complication of diabetes mellitus. It has been suggested that nitric oxide (NO) and α2β1 integrin (a platelet receptor for collagen) play an important role in the pathogenesis of microvascular complications in DR.AimThe aim of this study was to investigate the association of two candidate genes involved in the regulation of retinal vasculature, endothelial nitric oxide synthase (eNOS) and α2β1 integrin (ITGA2) genes, with the development of DR in Egyptian patients with type 2 diabetes mellitus and to investigate whether genetic variants will affect the type of retinopathy (proliferative or nonproliferative).MethodsIn this study, 70 patients were enrolled and categorized into two groups: (1) a DR group consisting of 50 patients with DR, which was further subclassified into 25 patients with nonproliferative DR (NPDR group) and 25 patients with proliferative DR (PDR group) and (2) a diabetes without retinopathy (DWR) group, comprising 20 patients with type 2 diabetes of more than 10 years’ duration who showed no signs of DR. Associations of the genetic polymorphisms of eNOS (G894T) and ITGA2 (BgI II) were studied. Polymerase chain reaction-restriction fragment length polymorphism analysis was performed for all samples to evaluate the genotypes and correlate with the phenotype of the disease.ResultsThe allele frequencies of both polymorphisms showed considerable differences between patients with and without DR. The GG genotype of G894T polymorphism of eNOS was associated with a 9.75-fold increased risk of DR (95% confidence interval 1.7–55.4) and the genotype ITGA2 BgI II (+/+) was associated with a 10.1-fold increased risk of DR (95% confidence interval 1.8–57.9), while the α2β1 integrin gene polymorphism of genotype distribution of both eNOS and ITGA2 polymorphisms did not differ significantly between the proliferative and nonproliferative DR groups.ConclusionA significant association between the G894T polymorphism of eNOS and BgI II polymorphism of ITGA2 genes and DR was observed, while there was no association between the genetic variants of those two polymorphisms and the type of retinopathy.

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“…Several polymorphisms have been identified in the gene encoding the α2 subunit in the α2β1 integrin ( ITGA2 ). Among them, the BgI II polymorphism located in intron G is reported to be linked with two exonic polymorphisms, 807C and 873A (Kritzik et al, 1998) to affect the density of platelet receptors α2β1 (Pavkovic et al, 2010), thus contributing to the high risk of thrombosis. Indeed, the density of platelet α2β1 receptors is ruled by several polymorphisms in ITGA2 : Bgl II in intron G, 807T/C in exon 7 and 837T/C and 873A/G in exon 8 of the ITGA2 .…”

mentioning

confidence: 99%

“…Three α2 gene alleles are defined by these polymorphisms: allele 1 is governed by (807 T, 837 T, 873A) variants and linked to the Bgl II(+) allele and has been reported to be associated with high expression levels of α2β1 receptors, but the alleles 2 and 3 linked to (807C, 837T, 873G) and (807C, 837C, 873G) polymorphisms respectively and influenced by the Bgl II(−) allele were associated with low α2β1 receptors density (Kritizik et al, 1998). The Bgl II(+) allele has been considered a contributing factor to high level of α2β1 receptors and frequency of this polymorphism was reported to be 32% and 27% in healthy Macedonian and Chinese subjects (Pavkovic et al, 2010; Tsai et al, 2001) respectively. Otherwise, the α2 integrin polymorphism has been reported to be associated with the incidence of IS in young patients (Carlsson et al, 1999; Maakaroun et al, 2003).…”

mentioning

confidence: 99%

Association ofBglII Polymorphism inITGA2and (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

Jalel

Midani

Fredj

et al. 2020

Biological Research For Nursing

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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.

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<i>Bgl II</i> Polymorhism of the α2β1 Integrin Gene in Macedonian Population

Cited by 4 publications

References 18 publications

Association of Alpha-2 Beta-1 Integrin Polymorphism with Retinopathy in Diabetic Patients

Association of Alpha-2 Beta-1 Integrin Polymorphism with Retinopathy in Diabetic Patients

Association analysis of genetic variations of eNOS and α2ß1 integrin genes with type 2 diabetic retinopathy

Association ofBglII Polymorphism inITGA2and (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

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<i>Bgl II</i> Polymorhism of the α2β1 Integrin Gene in Macedonian Population

Cited by 4 publications

References 18 publications

Association of Alpha-2 Beta-1 Integrin Polymorphism with Retinopathy in Diabetic Patients

Association of Alpha-2 Beta-1 Integrin Polymorphism with Retinopathy in Diabetic Patients

Association analysis of genetic variations of eNOS and &alpha;2&szlig;1 integrin genes with type 2 diabetic retinopathy

Association ofBglII Polymorphism inITGA2and (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

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Association analysis of genetic variations of eNOS and α2ß1 integrin genes with type 2 diabetic retinopathy