Association with the Development and Menorracy of Polymorphism Rs2046934 of the P2ry12 Gene in Patients with Dysaggregation Thrombocytopathies.

Authors

  • Shakhnoza G. Sabirova

Keywords:

polymorphism, allele, unfavorable, genotype, risk of development, menorrhagia

Abstract

The results of studying the peculiarities of the P2RY12 gene polymorphism (rs2046934) revealed in the main group of road traffic accidents an increase in the proportion of the unfavorable allele A by 2.24 times (χ2=3.61; P=0.06; OR=2.24) in relation to the control, which indicates the presence of a tendency towards the risk of developing disaggregated thrombocytopathies. In addition, there was an increase among patients with NDTP of the mutant genotype A / A (χ2=3.04; P=0.08). Indicates a tendency towards an increased risk of development and associative relationship with the clinic (namely with menorrhagia) (χ2=5.6; P=0.02; OR=4.3) of this disease.

How to Cite

Association with the Development and Menorracy of Polymorphism Rs2046934 of the P2ry12 Gene in Patients with Dysaggregation Thrombocytopathies. (2022). Global Journal of Medical Research, 22(C1), 1-5. https://medicalresearchjournal.org/index.php/GJMR/article/view/2658

References

Chaker Aloui, Tahar Chakroun, Viviana Granados, Saloua Jemni-Yacoub, Jocelyne Fagan, Abderrahim Khelif, Najoua Kahloul, Sabeur Hammami, Latifa Chkioua, Céline Barlier, Fabrice Cognasse, Sandrine Laradi, Olivier Garraud (2018) Molecular genetic diagnosis of Tunisian Glanzmann thrombasthenia patients reveals a common nonsense mutation in the ITGA2B gene that seems to be specific for the studied population. 29(8), 689-696.

Meera Chitlur, Madhvi Rajpurkar, Michael Recht, Michael Tarantino, Donald Yee, David Cooper, Sriya Gunawardena (2017) Recognition and management of platelet-refractory bleeding in patients with Glanzmann's thrombasthenia and other severe platelet function disorders. Volume 10, 95-99.

R Diz-Kucukkaya (2013) Inherited platelet disorders including Glanzmann thrombasthenia and Bernard-Soulier syndrome. 2013, 268-275.

T Drogies, L Braunert, J Thiery, M Brügel (2011) Thrombocytopathy: an update. 35(2), 1-7.

Katalin Koltai, Gabor Kesmarky, Gergely Feher, Antal Tibold, Kalman Toth (2017) Platelet Aggregometry Testing: Molecular Mechanisms, Techniques and Clinical Implications. 18(8), 1803.

A Lecchi, C Razzari, S Paoletta, A Dupuis, L Nakamura, P Ohlmann, C Gachet, K Jacobson, B Zieger, M Cattaneo (2015) Identification of a new dysfunctional platelet P2Y12 receptor variant associated with bleeding diathesis. 125, 1006.

S Mundell, D Rabbolini, S Gabrielli (2017) Receptor homodimerization plays a critical role in a novel dominant negative P2RY12 variant identified in a family with severe bleeding. 16(1), 44-53.

L Miao, F Gan, Y Gong (2018) Molecular analysis of gene mutations in eight patients with Glanzmann's thrombasthenia. 98, 2418-2423.

Paolo Gresele, Emanuela Falcinelli (2016) Loredana Bury Inherited platelet function disorders: Diagnostic approach and management JHamostaseologie.

Y Patel, M Lordkipanidzé, G Lowe, S Nisar, K Garner, J Stockley, M Daly, M Mitchell, S Watson, S Austin, S Mundell (2014) A novel mutation in the P2Y12 receptor and a function‐reducing polymorphism in protease‐activated receptor 1 in a patient with chronic bleeding. 12(5), 716-725.

Madhvi Rajpurkar, Sarah O'brien, Fareeda Haamid, David Cooper, Sriya Gunawardena, Meera Chitlur (2016) Heavy Menstrual Bleeding as a Common Presenting Symptom of Rare Platelet Disorders: Illustrative Case Examples. 29(6), 537-541.

Anne Rocheleau, Ayesha Khader, Anh Ngo, Colin Boehnlein, Cara Mcdavitt, Susan Lattimore, Michael Recht, Owen Mccarty, Kristina Haley (2018) Pilot study of novel lab methodology and testing of platelet function in adolescent women with heavy menstrual bleeding. 83(3), 693-701.

Shawn Jobe, Jorge Di Paola (2019) Congenital and Acquired Disorders of Platelet Function and Number. 145-166.

L Zhou, M Jiang, H Shen, T You, Z Ding (2018) Clinical and molecular insights into Glanzmann's thrombasthenia in China. 94(2), 213-220.

Thomas Blair, Alan Michelson, Andrew Frelinger (2018) Mass Cytometry Reveals Distinct Platelet Subtypes in Healthy Subjects and Novel Alterations in Surface Glycoproteins in Glanzmann Thrombasthenia. 8(1), 10300.

Association with the Development and Menorracy of Polymorphism Rs2046934 of the P2ry12 Gene in Patients with  Dysaggregation Thrombocytopathies.

Published

2022-03-17

How to Cite

Association with the Development and Menorracy of Polymorphism Rs2046934 of the P2ry12 Gene in Patients with Dysaggregation Thrombocytopathies. (2022). Global Journal of Medical Research, 22(C1), 1-5. https://medicalresearchjournal.org/index.php/GJMR/article/view/2658