Association between carriers of the G allele of the + 45T> G variant of the ADIPOQ gene (rs 2241766) and the cardiometabolic profile in sickle cell trait

Jamila Benvegnú Bruno,Emanuelle Schneider Dal Ponte,Vanessa Retamoso,Patrícia Maurer,Lyana Feijoó Berro,Vanusa Manfredini,Jacqueline Da Costa Escobar Piccoli

doi:10.1016/j.heliyon.2021.e06443

Jamila Benvegnú Bruno, Emanuelle Schneider Dal Ponte + Show 5 more

Open Access

https://doi.org/10.1016/j.heliyon.2021.e06443

Copy DOI

Journal: Heliyon	Publication Date: Mar 1, 2021
License type: cc-by

Affiliation: Universidade Federal do Pampa

Abstract

Aimsinvestigate the association between the +45T > G variant of the ADIPOQ gene and the metabolic syndrome (MS) in patients with sickle cell trait (SCT). 33 patients with SCT and 35 control group participated in the study. Lower levels of HDL and adiponectin were observed in patients with G allele and sickle cell trait. There were no differences between the prevalence of MS between the groups and there was no association between the +45T > G variant of the ADIPOQ gene and MS risk allele. Materials and methodsParticipants with and without sickle cell anemia answered a questionnaire, performed anthropometric and laboratory analyzes. They were genotyped for the +45T > G variant of the ADIPOQ gene and evaluated for the presence or absence of metabolic syndrome. The study was approved by the Research Ethics Committee of UNIPAMPA (RS/Brazil). Key findingsThe GG + TG genetic model, it was associated with lower levels of adiponectin and HDL cholesterol in the SCT group. There was no association between the other studied markers and MS. SignificanceFor the first time, an association was demonstrated between the G allele of the +45T > G variant of the ADIPOQ gene and a worse cardiometabolic profile (lower serum concentrations of adiponectin and HDL cholesterol) in patients with sickle cell trait.

Highlights

Hemoglobinopathies are autosomal recessive pathologies associated with hemoglobin protein synthesis [1,2] and sickle cell anemia (SCA) is one of them [3]
Considering two potentially pro-inflammatory conditions of the vascular endothelium, the present study aims to investigate whether there is an association between the þ45T > G variant in ADIPOQ gene and the metabolic syndrome in patients with sickle cell trait (SCT) to elucidate possible inflammatory mechanisms related to the cardiometabolic health of these patients
The present study demonstrated, for the first time, the sickle cell trait associated with a multifactorial disease, such as metabolic syndrome (MS), and a possible relationship with the single nucleotide polymorphism (SNP) of the adiponectin synthesizing gene, being a new debate on issues related to the cardiometabolic health of this group

Summary

Introduction

Hemoglobinopathies are autosomal recessive pathologies associated with hemoglobin protein synthesis [1,2] and sickle cell anemia (SCA) is one of them [3]. In addition to the genetic conditions of individuals, it is known that, in certain situations, the severity of some types of diseases can be affected in this group of patients. In this context, metabolic syndrome (MS) can be considered. Considering two potentially pro-inflammatory conditions of the vascular endothelium (presence of HbS and MS), the present study aims to investigate whether there is an association between the þ45T > G variant in ADIPOQ gene and the metabolic syndrome in patients with SCT to elucidate possible inflammatory mechanisms related to the cardiometabolic health of these patients

Objectives

Methods

Results

Conclusion