Transmembrane 6 superfamily member 2 167K allele improves renal function in children with obesity
Transmembrane 6 superfamily member 2 167K allele improves renal function in children with obesity
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DOI：
10.1038/s41390-020-0753-5
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发表时间：
2020-01-10
影响因子：
3.6
通讯作者：
del Giudice, Emanuele Miraglia
中科院分区：
文献类型：
--
作者：
Marzuillo, Pierluigi;Di Sessa, Anna;del Giudice, Emanuele Miraglia
背景跨膜 6 超家族成员 2 (TM6SF2) E167K 多态性影响无糖尿病和肥胖成人的估计肾小球滤过率 (eGFR)。我们的目的是探讨这种多态性对患有或不患有非酒精性脂肪肝病 (NAFLD) 的肥胖儿童 eGFR 的影响。方法对531例肥胖儿童进行TM6SF2 E167K多态性基因分型。 NAFLD 的定义是超声检测到肝脏脂肪变性和/或 ALT > 40 IU/L。结果 在患有和不患有 NAFLD 的受试者中，与 E167 纯合子患者相比，携带 TM6SF2 167K 等位基因的患者表现出更高的 eGFR 水平。一般线性模型证实，无论是否患有 NAFLD 患者，eGFR 值与 TM6SF2 基因型均存在直接且显着的关联。然而，这种关联在 NAFLD 患者中更为明显。结论 与 E167 等位基因纯合受试者相比，携带 TM6SF2 167K 等位基因的肥胖儿童表现出更高的 eGFR 水平，与 NAFLD 无关。发现了这种多态性在 NAFLD 存在时的主要影响。
Background The transmembrane 6 superfamily member 2 (TM6SF2) E167K polymorphism influences estimated glomerular filtration rate (eGFR) in adults without diabetes and without obesity. We aimed exploring the impact of this polymorphism on eGFR in children with obesity with and without non-alcoholic fatty liver disease (NAFLD). Methods We genotyped 531 children with obesity for TM6SF2 E167K polymorphism. NAFLD was defined by ultrasound detected liver steatosis and/or ALT > 40 IU/L. Results Patients carrying the TM6SF2 167K allele showed higher eGFR levels compared with E167 homozygous patients both among subjects with and without NAFLD. A general linear model confirmed a direct and significant association of eGFR values with TM6SF2 genotype both in patients with and without NAFLD. This association, however, was stronger in patients with NAFLD. Conclusions Children with obesity carrying the TM6SF2 167K allele show higher eGFR levels compared with E167 allele homozygous subjects, independently of NAFLD. A major effect of this polymorphism in the presence of NAFLD was captured.