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Abstract: FR-PO1065

Hypertension and Obesity in High School Students: Genetic and Environmental Factors in the HYGEF Study

Session Information

Category: Pediatric Nephrology

  • 1700 Pediatric Nephrology


  • Fontana, Simone, HSR-Nefrologia, Milano, Italy
  • Maggioni, Chiara, San Raffaele Scientific Institute, Milan, Italy
  • Lanzani, Chiara, San Raffaele Scientific Institute, Milan, Italy
  • Zagato, Laura, Ospedale San Raffaele, Milan, Italy
  • Simonini, Marco, San Raffaele Scientific Institute, Milan, Italy
  • Brioni, Elena, Ospedale San Raffaele, Milan, Italy
  • Citterio, Lorena, Università Vita-Salute - Ospedale San Raffaele, Milano, Italy
  • Delli carpini, Simona, HSR-Nefrologia, Milano, Italy
  • Manunta, Paolo, HSR-Nefrologia, Milano, Italy

The clinical outcomes associated to hypertension and obesity in the young population are major
risk factors for renal and cardiovascular events in the adult age.
Objectives of the study are: to assess the associations among genetic and environmental factors
and blood pressure (BP) in a high school population before developing hypertension and to study
the transition from normotension to hypertension.


This observational cohort study obtained data from 3057 high school students in three different
regions of Italy. Participants underwent anthropometric, BP measurement and saliva and urine
sample collection. Selected genetic variants were determined.


Our results confirmed the link between body weight, salt intake and BP in adolescents (p<0.005; R
square 30%). Analysis of BP values (adjusted for BMI, waist circumference, age, sex, region) and
genetic polymorphisms evidenced associations with Lanosterol Synthase (LSS), an enzyme
involved in Endogenous Ouabain synthesis. The A allele of a missense variant in LSS gene was
associated to higher diastolic and systolic BP levels (DBP: LSS AA+AC 69.7±0.32 mmHg, LSS CC
68.8±0.3, p=0.004; SBP: LSS AA+AC 120.3±0.5, CC 119.3±0.4, p=0.008). Furthermore, a Klotho
(KL) missense genetic variant resulted strongly associated to 24h-urinary Na excretion (p=0.017,
recessive model). The urinary proteomic study showed an augmented excretion of IL1 in both
ADD1 T subjects and LSS C subjects, suggesting an increased inflammatory activity.


In this young Italian population we detected specific environmental factors (such as high salt
intake) and gene polymorphisms linked to higher BP values. This help to create the basis for
future interventions in educational, clinical and/or pharmacological studies