Transmembrane 6 superfamily member 2 167K allele improves renal function in children with obesity

• Published in: Pediatric research Vol. 88; no. 2; pp. 300 - 304
• Main Authors: Marzuillo, Pierluigi, Di Sessa, Anna, Cirillo, Grazia, Umano, Giuseppina Rosaria, Pedullà, Marcella, La Manna, Angela, Guarino, Stefano, Miraglia Del Giudice, Emanuele
• Format: Journal Article
• Language: English
• Published: United States Nature Publishing Group 01.08.2020
• Subjects: Obesity; Polymorphism
• ISSN: 0031-3998; 1530-0447
• DOI: 10.1038/s41390-020-0753-5

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.