| Full text | |
| Author(s): |
Chinedu, Okeke
[1]
;
Tonasse, Wouitchekpo Vincent
[1]
;
Albuquerque, Dulcineia Martins
[2]
;
Domingos, Igor de Farias
[3]
;
Araujo, Aderson da Silva
[4]
;
Cavalcanti Bezerra, Marcos Andre
[3]
;
Sonati, Maria de Fatima
[1]
;
Nunes dos Santos, Magnun Nueldo
[1]
Total Authors: 8
|
| Affiliation: | [1] Univ Estadual Campinas FCM Unicamp, Fac Ciencias Med, Campinas, SP - Brazil
[2] Univ Estadual Campinas, Ctr Hematol & Hemoterapia, Hemoctr, UNICAMP, Campinas, SP - Brazil
[3] Univ Fed Pernambuco UFPE, Programa Posgrad Genet, Recife, PE - Brazil
[4] Fundacao Hematol & Hemoterapia Pernambuco HEMOPE, Recife, SP - Brazil
Total Affiliations: 4
|
| Document type: | Journal article |
| Source: | Hematology, Transfusion and Cell Therapy; v. 43, n. 2, p. 165-170, APR-JUN 2021. |
| Web of Science Citations: | 0 |
| Abstract | |
Introduction: Mutations affecting genes involved in oxidative and signaling pathways may be associated with kidney disease in sickle cell anemia. We determined the allele and genotype frequencies of some polymorphisms in the promoter regions of the Heme Oxygenase-1 (HMOX1) {[}rs2071746 (A > T) and (GT)n repeats, short (S) and long (L) alleles] and Bone Morphogenetic Protein Receptor type-1B (BMPR1B) {[}rs17022863 (A > G), rs4331783 (A > G) and rs1470409 (A > G)] genes in 75 adult patients with sickle cell anemia and 160 healthy controls and investigated whether these polymorphisms may influence the estimated glomerular filtration rate for the patients. Methods: The single nucleotide polymorphisms were genotyped using the TaqMan assays, the HMOX1(GT)n repeats were determined by polymerase chain reaction fragment size analysis and the estimated glomerular filtration rate was calculated by the Modification of Diet in Renal Disease formula. Results: Regarding the HMOX1rs2071746, the estimated glomerular filtration rate median was significantly higher in TT patients (p = 0.019), including when TT was compared with AT + AA (p = 0.009); for the (GT)n repeats, the estimated glomerular filtration rate medians of SS, SL and LL significantly differed (p = 0.009), being the LL estimated glomerular filtration rate median significantly higher, when compared with the LS + SS (p = 0.005). These results suggest that both the homozygotes, TT for rs2071746 and LL for (GT)n repeats, lead to a higher risk of developing renal complications. Concerning the BMPR1B, the frequencies of GG for rs17022863 and AA for rs4331783 were significantly higher in patients than in controls (p = 0.002 and p = 0.008, respectively), however no association with estimated glomerular filtration rate was found. Conclusion: These results contribute to a better understanding of the genetic factors related to the development of nephropathy in sickle cell anemia patients. (C) 2021 Associacao Brasileira de Hematologia, Hemoterapia e Terapia Celular. Published by Elsevier Espana, S.L.U. (AU) | |
| FAPESP's process: | 14/00984-3 - Red blood cell disorders: pathophysiology and new therapeutic approaches |
| Grantee: | Fernando Ferreira Costa |
| Support Opportunities: | Research Projects - Thematic Grants |