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). We genotyped 531 children with obesity for TM6SF2 E167K polymorphism. NAFLD was defined by ultrasound detected liver steatosis and/or ALT > 40 IU/L. 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. 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.

中文翻译：

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跨膜6超家族成员2 167K等位基因改善肥胖儿童肾功能

跨膜 6 超家族成员 2 (TM6SF2) E167K 多态性影响无糖尿病和无肥胖成人的估计肾小球滤过率 (eGFR)。我们旨在探索这种多态性对患有和不患有非酒精性脂肪肝 (NAFLD) 的肥胖儿童 eGFR 的影响。我们对 531 名肥胖儿童进行了 TM6SF2 E167K 多态性基因分型。NAFLD 定义为超声检测到的肝脂肪变性和/或 ALT > 40 IU/L。与 E167 纯合子患者相比，携带 TM6SF2 167K 等位基因的患者在患有和不患有 NAFLD 的受试者中显示出更高的 eGFR 水平。通用线性模型证实了 eGFR 值与 TM6SF2 基因型在 NAFLD 和非 NAFLD 患者中存在直接且显着的关联。然而，这种关联在 NAFLD 患者中更强。与 E167 等位基因纯合子受试者相比，携带 TM6SF2 167K 等位基因的肥胖儿童显示出更高的 eGFR 水平，与 NAFLD 无关。在 NAFLD 存在下，这种多态性的主要影响被捕获。