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Analysis of susceptibility genes to leg ulcer in patients with sickle cell disease

Grant number: 15/24029-3
Support type:Scholarships in Brazil - Doctorate (Direct)
Effective date (Start): December 01, 2015
Effective date (End): June 30, 2019
Field of knowledge:Health Sciences - Medicine - Medical Clinics
Principal researcher:Mônica Barbosa de Melo
Grantee:Gabriela Queila de Carvalho Siqueira
Home Institution: Centro de Biologia Molecular e Engenharia Genética (CBMEG). Universidade Estadual de Campinas (UNICAMP). Campinas , SP, Brazil
Associated research grant:14/00984-3 - Red blood cell disorders: pathophysiology and new therapeutic approaches, AP.TEM


Although Sickle Cell Anemia (SCA) results from homozygosity of a single mutation at position 6 of the beta-globin locus, the clinical aspect of this disease is very heterogeneous, and hence different patients can have significantly different clinical manifestations. Almost all organs can be affected by the vascular occlusion. Leg ulcer is one of the worst complications, exerting highly negative impact on life quality in patients with SCA, and is related to the severity of the clinical aspect of the disease. Its prevalence, depending on socioeconomic factors and the study population, varies from 2.5% in the US to 40% in Jamaica. The literature shows that there is an important genetic component for this complication. Detailed studies will allow a better understanding of the disease, resulting in new insights for future genetic and therapeutic strategies. Thus, seeking to determine which variants increase the risk of leg ulcer development in a sample of the Brazilian population, we propose two approaches: the analysis of the main variants already associated with SCA and other disorders using OpenArray® technology and the search for rare variants through exome sequencing. (AU)

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Scientific publications
(References retrieved automatically from Web of Science and SciELO through information on FAPESP grants and their corresponding numbers as mentioned in the publications by the authors)
DE CARVALHO-SIQUEIRA, GABRIELA QUEILA; ANANINA, GALINA; DE SOUZA, BRUNO BATISTA; BORGES, MURILO GUIMARAES; ITO, MIRTA TOMIE; DA SILVA-COSTA, SUELI MATILDE; DOMINGOS, IGOR DE FARIAS; FALCAO, DIEGO ARRUDA; LOPES-CENDES, ISCIA; CAVALCANTI BEZERRA, MARCOS ANDRE; et al. Highlight article: Whole-exome sequencing indicates FLG2 variant associated with leg ulcers in Brazilian sickle cell anemia patients. Experimental Biology and Medicine, v. 244, n. 11, p. 932-939, . (15/24029-3, 14/00984-3)
Academic Publications
(References retrieved automatically from State of São Paulo Research Institutions)
SIQUEIRA, Gabriela Queila de Carvalho. Investigation of variants associated with leg ulcers in sickle cell anemia through exome sequencing. 2019. Doctoral Thesis - Universidade Estadual de Campinas (UNICAMP). Faculdade de Ciências Médicas Campinas, SP.

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