Publicação
Variants of the PKLR gene are associated with rates of hospitalization in Angolan children with sickle cell anemia
| datacite.subject.fos | Ciências Naturais | |
| datacite.subject.sdg | 03:Saúde de Qualidade | |
| dc.contributor.author | Manco, Licínio | |
| dc.contributor.author | Santos, Brígida | |
| dc.contributor.author | Faustino, Paula | |
| dc.contributor.author | Ginete, Catarina | |
| dc.contributor.author | Brito, Miguel | |
| dc.contributor.author | Arez, Ana Paula | |
| dc.date.accessioned | 2026-03-03T17:56:25Z | |
| dc.date.available | 2026-03-03T17:56:25Z | |
| dc.date.issued | 2025-05-24 | |
| dc.description.abstract | Background: Sickle cell anemia (SCA), caused by the c.20 A>T (p.Glu6Val) mutation in the HBB gene, is one of the most prevalent hereditary diseases in Sub-Saharan Africa. Patients with the HbSS genotype exhibit variable phenotypic expressions and disease severity, often reflected in hospitalization rates. Reduced activity of pyruvate kinase (PKR, gene: PKLR), a key enzyme in glycolysis, impacts SCA pathophysiology through 2,3-DPG accumulation and ATP deficit. This study analyzed the association of three PKLR variants with hospitalization and clinical parameters in Angolan children with SCA. Material and Methods: Sixty-three SCA children (3–12 years) were monitored in a prospective study (2019–2022). Polymorphisms rs8177970 and rs3020781 (intron 3) and rs1052177 (3' UTR) in the PKLR gene, were analyzed via PCR-RFLP. Allele frequencies and Hardy-Weinberg equilibrium (HWE) were assessed using Arlequin 3.5, and SPSS 27 was used for statistical analyses. Association studies were compared using the Mann-Whitney U test, combining heterozygous and homozygous individuals for the minor allele into a single group. Results: Minor allele frequencies for rs8177970, rs3020781, and rs1052177 were 0.214, 0.221, and 0.377, respectively, with all genotype distributions consistent with the HWE. Polymorphism rs1052177 was significantly associated with hospitalization rates (p=0.025), while rs8177970 showed a near-significant association (p=0.068). No associations were found with hematological parameters. Conclusion: This study conducted in SCA children from Angola found potential links between two PKLR SNPs and hospitalization rates. The PKLR gene may act as a genetic modifier of the clinical progression of SCA, as these SNPs can affect gene expression levels. | eng |
| dc.identifier.uri | http://hdl.handle.net/10400.18/11072 | |
| dc.language.iso | eng | |
| dc.peerreviewed | yes | |
| dc.rights.uri | http://creativecommons.org/licenses/by/4.0/ | |
| dc.subject | Doenças Genéticas | |
| dc.subject | Drepanocitose | |
| dc.subject | Anemia Falciforme | |
| dc.subject | Sickle Cell Anemia | |
| dc.subject | PKLR | |
| dc.subject | Angola | |
| dc.title | Variants of the PKLR gene are associated with rates of hospitalization in Angolan children with sickle cell anemia | eng |
| dc.type | conference object | |
| dspace.entity.type | Publication | |
| oaire.citation.conferenceDate | 2025-05-24 | |
| oaire.citation.conferencePlace | Milan, Italy | |
| oaire.citation.title | European Human Genetics Conference (ESHG), 24-27 May 2025 | |
| oaire.version | http://purl.org/coar/version/c_970fb48d4fbd8a85 |