Bruno Jamila Benvegnú, Dal Ponte Emanuelle Schneider, Retamoso Vanessa, Maurer Patrícia, Berro Lyana Feijoó, Manfredini Vanusa, da Costa Escobar Piccoli Jacqueline
Postgraduate Program in Biochemistry, Federal University of Pampa, BR 472, Km 592, P.O. BOX 118, Zip Code 97508-000, Uruguaiana, Rio Grande do Sul, Brazil.
Postgraduate Program in Pharmaceutical Sciences, BR 472, Km 592, P.O. BOX 118, Zip Code 97508-000, Uruguaiana, Rio Grande do Sul, Brazil.
Heliyon. 2021 Mar 11;7(3):e06443. doi: 10.1016/j.heliyon.2021.e06443. eCollection 2021 Mar.
investigate 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.
Participants 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).
The 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.
For 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.
研究携带镰状细胞性状（SCT）的患者中脂联素基因（ADIPOQ）+45T>G变异与代谢综合征（MS）之间的关联。33例携带SCT的患者和35例对照组参与了该研究。携带G等位基因和镰状细胞性状的患者中观察到较低水平的高密度脂蛋白（HDL）和脂联素。两组之间MS的患病率没有差异，并且ADIPOQ基因的+45T>G变异与MS风险等位基因之间没有关联。
有或无镰状细胞贫血的参与者回答了一份问卷，进行了人体测量和实验室分析。对他们进行ADIPOQ基因+45T>G变异的基因分型，并评估代谢综合征的存在与否。该研究得到了南大河联邦大学（巴西，南里奥格兰德州）研究伦理委员会的批准。
在SCT组中，GG+TG遗传模型与较低水平的脂联素和HDL胆固醇相关。其他研究的标志物与MS之间没有关联。
首次证明携带镰状细胞性状的患者中，ADIPOQ基因+45T>G变异的G等位基因与较差的心脏代谢状况（较低的血清脂联素浓度和HDL胆固醇）之间存在关联。
