MBL2 gene polymorphisms are not related to the occurrence of cerebrovascular disease in sickle cell anemia
DOI:
https://doi.org/10.33448/rsd-v9i7.4240Keywords:
Sickle cell anemia; cerebrovascular disease; MBL2 gene; polymorphism.Abstract
Objective: This study has as objective to verify whether MBL2 gene polymorphisms are related to the occurrence of cerebrovascular disease (CD) in sickle cell anemia (SCA) patients. Methods: Overall, 259 unrelated SCA patients were enrolled. The patients were divided into three groups: control group, stroke group ad range of risk group. Peripheral blood samples were collected and DNA extraction was performed. All patients were genotyped for exon 1, promoter region -221 and promoter region -550 of MBL2 gene, along with β-globin gene haplotypes. Results: Concerning the genotyping of the MBL2, there was no difference in the frequency of allelic and genotypic variants of the exon 1 and the promoter regions -221 and -550 of the MBL2 gene among the studied groups. Conclusion: Despite the small number of patients, and the lack of association between MBL2 polymorphisms and CD, our study represents an effort to understand the impact of MBL2 polymorphisms in the clinical outcome of patients with SCA.
References
Adams RJ, McKie VC, Hsu L, Files B., Vichinsky E, Pegelow C, Abboud M, Gallagher D, Kutlar A, Nichols FT, Bonds DR & Brambilla D. Prevention of a first stroke by transfusions in children with sickle cell anemia and abnormal results on transcranial Doppler ultrasonography. New England Journal of Medicine, (1998) 339, 5– 11. http://doi.org/10.1056/NEJM199807023390102.
Bąk-Romaniszyn L, Świerzko AS, Sokołowska A, Durko Ł, Mierzwa G, Szala-Poździej A, Małecka-Panas E, Cedzyński M. Mannose-binding lectin (MBL) in adult patients with inflammatory bowel disease. Immunobiology., (2020) 225(1):151859. doi: 10.1016/j.imbio.2019.10.008.
Calvo-alén J, Alarcón GS, Tew MB, Tan FK, Mcgwin G, Fessler BJ, Vilá M, Reveille JD. Systemic lupus erythematosus in a multiethnic US cohort XXXIV. Deficient mannose-binding lectin exon 1 polymorphisms are associated with cerebrovascular but not with other arterial thrombotic events. Arthritis Rheum, (2006) 54:1940-1945. http://doi.org/10.1002/art.21787.
Chen H, Yoshioka H, Kim GS, Jung JE, Okami N, Sakata H, Maier CM, Narasimhan P, Goeders CE, Chan PH. Oxidative stress in ischemic brain damage: mechanisms of cell death and potential molecular targets for neuroprotection. Antioxid. Redox Signal., (2011) 14 1505–17. http://doi: 10.1089/ars.2010.3576
Davis LG, Dibner MD, Battey JF. Basic Method in Molecular Biology. 1ª ed. Londres: Elservier, (1986) 388p.
Dogru D, Polat SE, Tan Ç, Tezcan İ, Yalçın SS, Utine E, Oğuz B, Yaz İ, Emiralioğlu N, Hızal M, Yalçın E, Özçelik U, Çağdaş D, Kiper N. Impact of mannose-binding lectin 2 gene polymorphisms on disease severity in noncystic fibrosis bronchiectasis in children. Pediatr Pulmonol., (2020) 55(5):1190-1198. http://doi.org/10.1002/ppul.24711.
Domingos IF, Pereira-Martins DA, Borges-Medeiros RL, Falcao DA, Hatzlhofer BL, Brewin JN, Gardner K, Mendonca TF, Cavalcanti MS, Cunha AF, Anjos AC, Rodrigues ES, Kashima S, Cruz PR, Melo MB, Menzel S, Araujo AS, Costa FF, Bezerra MA, Lucena-Araujo AR.
Evaluation of oxidative stress-related genetic variants for predicting stroke in patients with sickle cell anemia. J Neurol Sci., (2020) 414:116839. doi: 10.1016/j.jns.2020.116839.
El-Behedy EM, Akeel N, El-Maghraby HM, Shawky A. Serum Level and Genetic Polymorphism of Mannose-Binding Lectin in Infants with Neonatal Sepsis at Zagazig University Hospitals. Egypt J Immunol., (2019) 26(1):91-99.
Flanagan JM, Frohlich DM, Howard TA, Schultz WH, Driscoll C, Nagasubramanian R, Mortier NA, Kimble AC, Aygun B, Adams RJ, Helms RW, Ware RE.. Genetic predictors for stroke in children with sickle cell anemia. Blood, (2011) 117: 6681-6684. http://doi.org/10.1182/blood-2011-01-332205.
Fiane AE, Videm V, Lingaas PS, Heggelund L, Nielsen EW, Geiran OR, FungM, Mollnes TE. Mechanism of complement activation and its role in the inflammatory response after thoracoabdominal aortic aneurysm repair. Circulation, (2003) 108:849–856. http://doi.org/10.1161/01.CIR.0000084550.16565.01.
Kato GJ, Piel FB, Reid CD, Gaston MH, Ohene-Frempong K, Krishnamurti L, Smith WR, Panepinto JA, Weatherall DJ, Costa FF, Vichinsky EP. Sickle cell disease. Nat. Rev. Dis. Prim., (2018) 4. 18010. https://doi.org/10.1038/nrdp.2018.10.
Medeiros FS, Mendonça TF Ou Belmont TFM, Lopes KAM, Franca LMC, Soares AS, Vasconcelos LRS, Oliveira MCVC, Anjos ACM, Hatzlhofer Betânia L, Bezerra MAC, Moura P, Cavalcanti MSM. Association of combined genotypes of MBL2 gene related to low MBL levels with vasooclusive events in children with sickle cell anemia. Genetics and Molecular Biology, (2017) v.1, p.1. https://doi.org/10.1590/1678-4685-gmb-2016-0161.
Neglia L, Fumagalli S, Orsini F, Zanetti A, Perego C, De Simoni MG. Mannose-binding lectin has a direct deleterious effect on ischemic brain microvascular endothelial cells. J Cereb Blood Flow Metab., (2019) 7:271678X19874509. doi: 10.1177/0271678X19874509.
Ngo D, Bae H, Steinberg MH, Sebastiani P, Solovieff N, Baldwin CT, Melista E, Safaya S, Farrer LA, Al-Suliman AM, Albuali WH, Al Bagshi MH, Naserullah Z, Akinsheye I, Gallagher P, Luo HY, Chui DH, Farrell JJ, Al-Ali AK, Alsultan A. Fetal hemoglobin in sickle cell anemia: genetic studies of the Arab-Indian haplotype. Blood Cells Mol Dis., (2013) 51(1):22-6. doi: 10.1016/j.bcmd.2012.12.005.
Jordan JE, Montalto MC, Stahl GL. Inhibition of mannosebinding lectin reduces post-ischemic myocardial reperfusion injury. Circulation, (2001) 104:1413–1418. http://doi.org/10.1161/hc3601.095578.
Sanchaisuriya K, Chunpanich S, Fucharoen G, Fucharoen S. Multiplex allelespecific PCR assay for differential diagnosis of Hb S, Hb D-Punjab and Hb Tak. Clin. Chim. Acta, (2004) 343 129–34. http://doi.org/10.1016/j.cccn.2003.12.029.
Sarnaik SA, Ballas SK. Molecular characteristics of pediatric patients with sickle cell anemia and stroke. American Journal of Hematology, (2001) 67(3): 179-82. https://doi.org/10.1002/ajh.1103
Song FY, Wu MH, Zhu LH, Zhang ZQ, Qi QD, Lou CL. Elevated Serum Mannose-Binding Lectin Levels Are Associated with Poor Outcome After Acute Ischemic Stroke in Patients with Type 2 Diabetes. Mol Neurobiol., (2015) 52(3):1330-1340. http://doi.org/10.1007/s12035-014-8941-0.
Wang ZY, Sun ZR, Zhang LM. The relationship between serum mannose-binding lectin levels and acute ischemic stroke risk. Neurochem Res., (2014) 39(2):248-53. http://doi.org/10.1007/s11064-013-1214-x.
Zhou J, Hu M, Li J, Liu Y, Luo J, Zhang L, Lu X, Zuo D, Chen Z. Mannan-Binding Lectin Regulates Inflammatory Cytokine Production, Proliferation, and Cytotoxicity of Human Peripheral Natural Killer Cells. Mediators Inflamm., (2019) 6738286. doi: 10.1155/2019/6738286.
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