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ADIPOQ基因()+45T>G变异的G等位基因携带者与镰状细胞性状的心脏代谢特征之间的关联。

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

作者信息

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

机构信息

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.

出版信息

Heliyon. 2021 Mar 11;7(3):e06443. doi: 10.1016/j.heliyon.2021.e06443. eCollection 2021 Mar.

Abstract

AIMS

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.

MATERIALS AND METHODS

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).

KEY FINDINGS

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.

SIGNIFICANCE

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.

摘要

目的

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。

材料与方法

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。

主要发现

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。

意义

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。

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1
Prevalence of hemoglobinopathies in the Brazilian adult population: National Health Survey 2014-2015.巴西成年人群血红蛋白病患病率:2014 - 2015年全国健康调查
Rev Bras Epidemiol. 2019 Oct 7;22Suppl 02(Suppl 02):E190007.SUPL.2. doi: 10.1590/1980-549720190007.supl.2. eCollection 2019.
4
Sickle Cell Trait and the Risk of ESRD in Blacks.镰状细胞性状与黑人患终末期肾病的风险
J Am Soc Nephrol. 2017 Jul;28(7):2180-2187. doi: 10.1681/ASN.2016101086. Epub 2017 Mar 9.

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