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Article Abstract
Background: While an increase in fetal hemoglobin (HbF) has no consequences in healthy adults, clinical benefits can be promoted in sickle cell disease (SCD) and β-thalassemia patients. Single-nucleotide polymorphisms (SNPs) in three genomic regions: the gene cluster, the gene, and the () intergenic region, have been associated with HbF regulation. Therefore, the present study aimed to examine the potential association of SNPs in (rs11886868 and rs1427407), (rs66650371 and rs4895441), (rs7482144), and (rs7924684) with HbF levels in an adult population sample from São Tomé e Príncipe (Central Africa).
Methods: A total of 145 women aged 18 to 49 years were involved in this study, comprising 98 women with the normal hemoglobin (Hb) genotype (HbAA) and 47 with sickle cell trait (HbAS). From the HbAA individuals, we selected a control group of 60 subjects with normal HbF levels, ranging from 0.2% to 1.4% (mean: 0.75%), and a case group of 38 subjects with elevated HbF levels, ranging from 1.8% to 3.7% (mean: 2.35%). In the group of HbAS individuals, the HbF levels ranged from 0.4% to 3.7% (mean: 1.56%). SNP genotyping was conducted using standard molecular methods.
Results: Logistic regression, in the additive model, revealed significant associations with increased levels of HbF for the minor alleles of the two SNPs, rs11886868 [C] and rs1427407 [T], in HbAA women ( = 0.00018 and = 0.00076, respectively). When comparisons of HbF levels were conducted among genotypes in the HbAA women, significant differences were observed for SNPs rs11886868 and rs1427407, as well as for the rs7482144 and rs7924684 variants. We found no association between HbF levels and the two variants rs66650371 and rs4895441 in the HbAA women. Among the HbAS women, no statistically significant associations were observed between the six analyzed polymorphisms and HbF levels ( 0.05).
Conclusions: We successfully replicated the association between the two well-known SNPs, rs11886868 and rs1427407, with HbF levels in women with the normal HbAA genotype from São Tomé e Príncipe. Other signals of association with HbF levels were identified for the SNPs (rs7482144) and (rs7924684).
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