Associação entre o polimorfismo adipoq + 45 t>g e síndrome metabólica em portadores de traço falciforme

Abstract

Hemoglobinopathies are very common hereditary disorders that affect the entire world population and cause a large public health problem. Among these hemoglobinopathies, individuals with sickle cell trait that have the S gene producing both HbS and Hemoglobin A (HbAS) are noteworthy. Sickle-cell carriers have sickle-shaped red blood cells and these tend to settle in small blood vessels and can obstruct them, thus affecting the cardiovascular risk in these patients. Another worrying picture due to its high prevalence and cardiovascular morbimortality is the metabolic syndrome (MS). However, the influence that MS may have on sickle cell trait patients is not yet fully understood. As obesity is an independent risk factor for the diagnosis of MS, molecules secreted by adipose tissue may be related to a cardiovascular mortality. Among the molecules secreted by adipose tissue, adiponectin is a hormone whose serum levels are related to pathologies and also depend on the genetic profile of the individual, such as the presence of polymorphs in the adiponectin gene. Thus, the objective of this study was to verify if there is an association between the AdipoQ + 45 T> G gene polymorphism and metabolic syndrome in patients with sickle cell trait. Of these 33 patients with sickle cell trait (TF) and 35 non-sickle cell trait (control group). For the TF group the mean hemoglobin S (HbS) was 40.3 ± 1.5g / dL. There was no difference between the frequencies of MS between the groups (TF = 30.3%, controls = 40%). The analyzes of the genotypic frequencies did not present significant differences, for the TF group: TT = 69.7%; TG = 27.3% and GG = 3.0%, as well as in the control group there were no differences, for comparison: TT = 74.3%; TG = 20.0% and GG = 5.7%. The influence of the G allele on the associations was tested through the GG + TG haplotype where there were also no differences between the groups. No association was observed between the allelic and genotypic frequencies of the SNP AdipoQ +45 T>G and metabolic syndrome in patients with sickle cell trait. However, it is known that up to now this is a pioneer study on associations between the SNP AdipoQ +45 T>G in sickle cell trait, and the sequence of studies with this population is of great relevance.