Polymorphisms of Platelet Glycoprotein Receptors and Cell Adhesion Molecules in Fetuses with Fetal Growth Restriction and Their Mothers As Detected with Pyrosequencing

Simou, Maria; Kouskouni, Evaggelia; Vitoratos, N.; Economou, Emmanuel; Creatsas, George

doi:10.21873/invivo.11052

Cited by 7 publications

(3 citation statements)

References 27 publications

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“…It should be noted that biotin was attached to one of the DNA chains of the PCR fragment using the primer "bio-" (biotinylated). This was necessary for the analysis of the biotinylated DNA chain of the investigated amplificate using the pyrosequencing [35][36][37] . PCR primer sequences, taken for the present reseach [24,26,[28][29][30] Annealing temperature for the PCR is shown in Table 3.…”

Section: Methodsmentioning

confidence: 99%

MtDNA mutations linked with left ventricular hypertrophy

Sinyov¹,

Рыжкова²,

Sazonova³

et al. 2019

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Aim: In left ventricular hypertrophy (LVH), the heart muscle thickens. One third of individuals with LVH never complain of heart problems. However, such patients have a high risk of sudden death. LVH can be caused by arterial atherosclerotic lesions. The linkage of mtDNA mutations 652insG, m.5178C>A, m.3336T>C, m.14459G>A, 652delG, m.14846G>A, m.1555A>G, m.15059G>A, m.3256C>T, m.12315G>A and m.13513G>A with atherosclerosis was described earlier by our laboratory. The aim of the study was to analyze the linkage of these mtDNA mutations with LVH. Methods: DNA from white blood cells was isolated using a phenol-chloroform method. PCR-fragments of DNA contained the region of the investigated mutations. The heteroplasmy level of mtDNA mutations was analyzed using a pyrosequencing-based method developed by our laboratory. Results: We investigated two groups of individuals. One hundred and ninety-four patients with LVH. Two hundred and ten were conventionally healthy. It was found that mtDNA mutation m.5178C>A was significantly associated with LVH. Single nucleotide replacement m.1555A>G was associated with LVH at the level of significance P ≤ 0.1. At the same time m.12315G>A and m.3336T>C were significantly associated with the absence of this pathology. Single nucleotide replacement m.14459G>A was associated with the absence of LVH at the significance level P ≤ 0.1. Conclusion: MtDNA mutations m.5178C>A and m.1555A>G can be used for molecular genetic assessment of the predisposition of individuals to the occurrence of left ventricular hypertrophy. They can also be used for the family analysis of this pathology. Mutations m.12315G>A, m.3336T>C and m.14459G>A can be used in the development of LVH gene therapy methods.

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Section: Methodsmentioning

confidence: 99%

MtDNA mutations linked with left ventricular hypertrophy

Sinyov¹,

Рыжкова²,

Sazonova³

et al. 2019

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“…The study was carried out using amplifier "PTC DNA Engine 200". After that pyrosequencing of PCR fragments was conducted using the apparatus (PSQ96MA) [30][31][32][33][34] . The pyrosequencing reaction included 4 stages [30][31][32][33][34] .…”

Section: Methodsmentioning

confidence: 99%

New markers of atherosclerosis: a threshold level of heteroplasmy in mtDNA mutations

Sazonova¹,

Рыжкова²,

Sinyov³

et al. 2017

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How to cite this article: Sazonova MA, Ryzhkova AI, Sinyov VV, Galitsyna EV, Orekhova VA, Melnichenko AA, Orekhov AN, Ravani AL, Sobenin IA. New markers of atherosclerosis: a threshold level of heteroplasmy in mtDNA mutations. Vessel Plus 2017;1:182-91. Aim:The aim of the present article was the detection of threshold heteroplasmy level of mitochondrial DNA mutations, above which a patient is at increased risk of atherosclerotic lesions. Besides, this parameter was detected for mutations, in which after reaching threshold heteroplasmy level, a protective antiatherogenic effect started to appear. Methods: The participants of the study were 700 women and men from the Moscow region. Fragments of DNA, amplified by polymerase chain reaction, were analyzed with pyrosequencing technology. Then on the basis of pyrograms' peaks in the samples, the heteroplasmy level of the investigated mitochondrial genome mutations was detected. Results: The threshold heteroplasmy level of 11 investigated mutations (m.5178C>A, m.15059G>A, m.652delG, m.13513G>A, m.14846G>A, m.652insG, m.12315G>A, m.3336T>C, m.1555A>G, m.14459G>A, m.3256C>T) in individuals with atherosclerotic plaques or thickening of the intima-medial layer of carotid arteries was detected. Conclusion: Using the method developed in our laboratory, the authors managed to determine threshold heteroplasmy levels of 11 mitochondrial genome mutations associated

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“…Low-dose aspirin was recommended to prevent platelet activation and aggregation. All the patients received low doses of aspirin(3–5 mg/kg/day).Integrin α2 (ITGA2), which encodes the alpha subunit of the transmembrane receptor for collagens and related proteins, is located on chromosome 5q23–31 [ 9 ]. The encoded protein forms a heterodimer with a beta subunit responsible for adhesion of platelets and other cell types to the extracellular matrix.…”

Section: Introductionmentioning

confidence: 99%

Integrin α2 gene polymorphism is a risk factor of coronary artery lesions in Chinese children with Kawasaki disease

Yuan

Jiang

et al. 2021

Pediatr Rheumatol

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Background Kawasaki disease (KD) is a systemic vasculitis, and the formation of coronary artery lesions(CAL) is its most common sequela. Both genetic and environmental factors are considered to be important factors of in KD. Integrin α2 (ITGA2) is a transmembrane receptor that is associated with susceptibility to several diseases, but its relevance to KD with CAL is unclear. Methods We genotyped ITGA2 rs1126643 in 785 KD patients with the CAL and no-CAL(NCAL) (300 patients with CAL, and 485 age- and sex-matched patients with NCAL). OR (95% CI) and adjusted OR (95% CI) were used to evaluate the intensity of the association. Results We found a significantly increased risk of KD with CAL associated with ITGA2 rs1126643 genotypes (CT vs CC: adjusted OR = 1.57, 95% CI = 1.16–2.12, P = 0.0032; CT/TT vs CC: adjusted OR = 1.49, 95% CI = 1.12–2.00, P = 0.0068; T vs C: adjusted OR = 1.66, 95% CI = 1.16–2.51, P = 0.0165). Moreover, we found that carriers of the CT/TT genotype had a significant risk of KD with coronary artery lesion susceptibility for children ≤60 months of age, and the CT/TT genotype was significantly associated with an increased risk of SCAL formation and MCAL formation when compared with the CC genotype. Conclusion ITGA2 rs1126643 was associated with increased susceptibility and severity of CAL in KD.

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Polymorphisms of Platelet Glycoprotein Receptors and Cell Adhesion Molecules in Fetuses with Fetal Growth Restriction and Their Mothers As Detected with Pyrosequencing

Abstract: Our study demonstrated no association of maternal or fetal ITGA2 C807T SNP, ITGB3 T1565C SNP, PECAM1 CTG - GTG and SELP A/C polymorphisms with FGR.

Cited by 7 publications

References 27 publications

MtDNA mutations linked with left ventricular hypertrophy

MtDNA mutations linked with left ventricular hypertrophy

New markers of atherosclerosis: a threshold level of heteroplasmy in mtDNA mutations

Integrin α2 gene polymorphism is a risk factor of coronary artery lesions in Chinese children with Kawasaki disease

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