Polymorphisms and avascular necrosis in patients with sickle cell disease - A systematic review.

Autor: Leandro MP; Hospital Geral Ernesto Simões Filho, Salvador, BA, Brasil., Almeida ND; Bahia School of Medicine and Public Health, Academic Unit of Brotas, Salvador, BA, Brazil., Hocevar LS; Bahia School of Medicine and Public Health, Academic Unit of Brotas, Salvador, BA, Brazil., Sá CKC; Hospital Geral Ernesto Simões Filho, Salvador, BA, Brasil., Souza AJ; Bahia School of Medicine and Public Health, Academic Unit of Brotas, Salvador, BA, Brazil., Matos MA; Bahia School of Medicine and Public Health, Academic Unit of Brotas, Salvador, BA, Brazil.
Jazyk: English; Portuguese
Zdroj: Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo [Rev Paul Pediatr] 2022 May 11; Vol. 40, pp. e2021013. Date of Electronic Publication: 2022 May 11 (Print Publication: 2022).
DOI: 10.1590/1984-0462/2022/40/2021013IN
Abstrakt: Objective: To systematically establish whether there is an association between polymorphisms and avascular necrosis in patients with sickle cell disease.
Data Source: The review, conducted according to PRISMA guidelines and registered with PROSPERO, was based on research of studies in PubMed, SciELO, LILACS, BVS databases and in the gray literature (Google Scholar and Open Gray) published until June 2020. The STROBE initiative was used to analyze the articles' quality.
Data Synthesis: Ten articles were selected from the databases and two were included through manual search, totaling 12 studies. All samples gathered 2,362 patients. According to STROBE, seven studies fully and/or partially covered more than 70% of the essential items and two studies reached less than 60%, with an overall variation of 86.4-54.5%. The results indicate that polymorphisms in the genes of the bone morphogenetic protein 6 (BMP6), Klotho (KL) and Annexin A2 (ANXA2) may be associated with osteonecrosis in the context of sickle cell disease. Six articles addressed the polymorphism in the MTHFR enzyme gene, but only one found a positive association. Polymorphisms associated with the DARC receptor, the ITGA4 gene, CD36 and thrombophilia protein genes were not associated in any of the studies.
Conclusions: The results indicate that the polymorphisms in BMP6, Klotho and ANXA2 genes may be associated with avascular necrosis in patients with sickle cell disease. However, in order to confirm these genetic changes as risk factors, further studies with greater statistical power and methodological rigor are needed.
Databáze: MEDLINE
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