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 .