Polymorphisms in the heme oxygenase-1 and bone morphogenetic protein receptor type 1b genes and estimated glomerular filtration rate in Brazilian sickle cell anemia patients
| Autor: | Magnun N. N. Santos, Okeke Chinedu, Igor de Farias Domingos, Aderson S Araujo, Maria de Fátima Sonati, Marcos André Cavalcanti Bezerra, Wouitchékpo Vincent Tonassé, Dulcineia M. Albuquerque |
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| Rok vydání: | 2021 |
| Předmět: |
medicine.medical_specialty
HMOX1 Renal function Single-nucleotide polymorphism 030204 cardiovascular system & hematology Nephropathy 03 medical and health sciences 0302 clinical medicine Internal medicine medicine Immunology and Allergy Diseases of the blood and blood-forming organs Genetic polymorphism business.industry Hematology medicine.disease Sickle cell anemia BMPR1B Genotype frequency Endocrinology Heme oxygenase-1 Oxidative stress Original Article RC633-647.5 Glomerular filtration rate business 030215 immunology Kidney disease |
| Zdroj: | Hematology, Transfusion and Cell Therapy, Volume: 43, Issue: 2, Pages: 165-170, Published: 07 JUL 2021 Hematology, Transfusion and Cell Therapy, Vol 43, Iss 2, Pp 165-170 (2021) Hematology, Transfusion and Cell Therapy |
| ISSN: | 2531-1379 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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