Abstract: FR-PO560

Hypertension in High School Students: Genetic and Environmental Factors (HYGEF Study)

Session Information

Category: Hypertension

  • 1105 Hypertension: Clinical and Translational - Genetics and Epigenetics


  • Bigazzi, Roberto, USL NO , Livorno, Italy
  • Santini, Giada Giovanna, USL NO , Livorno, Italy
  • Brioni, Elena, Osp San Raffaele, Milan, Italy
  • Delli carpini, Simona, Osp San Raffaele, Milan, Italy
  • Citterio, Lorena, Osp San Raffaele, Milan, Italy
  • Simonini, Marco, Osp San Raffaele, Milan, Italy
  • Tentori, Stefano, Osp San Raffaele, Milan, Italy
  • Cellai, Filippo, USL NO , Livorno, Italy
  • Magnaghi, Cristiano, Osp San Raffaele, Milan, Italy
  • Bianchi, Stefano, USL NO , Livorno, Italy
  • Campese, Vito M., USC, Los Angeles, California, United States
  • Lanzani, Chiara, Osp San Raffaele, Milan, Italy
  • Manunta, Paolo, Osp San Raffaele, Milan, Italy
  • Zagato, Laura, Osp San Raffaele, Milan, Italy
  • Lenti, Salvatore, USL SE , Arezzo, Italy
  • Fontana, Simone, Osp San Raffaele, Milan, Italy
  • Messaggio, Elisabetta, Osp San Raffaele, Milan, Italy
  • Casamassima, Nunzia, Osp San Raffaele, Milan, Italy
  • Batini, Valentina, USL NO , Livorno, Italy
  • Nistri, Francesca, USL NO , Livorno, Italy

To evaluate the impact of gene pathways (Adducin (ADDs), Endogenous Ouabain (EO) genetic polymorphisms) in the transition from normotension to hypertension(HT) we performed an epidemiological study in 3 regions of northern(MI), central(Li), southern(Gr) Italy among young (age<18) high school students (St).


During a morning medical visit, we measured systolic (SBP) and diastolic (DBP) blood pressure, body weight, height, body mass index(BMI). A spot urine sample was collected to measure sodium (UNa),potassium (UK), creatinine, albumin. Finally, a saliva sample was obtained for DNA analyses. The 24 hour UNa was extimated according to Kawasaki's formula. Statistical analyzes were adjusted for age, sex, BMI and origin.


Preliminary results on 2635 St (F1501, M1134, age 16,8±1,8 yrs) showed regional differences both for estimated UNa (Gt 196.4±2.5 mEq/24h; Mi 178.7±2.8; Li 171.5±2.1; p <0.001), and SBP (Li 121.1±0.4 vs Mi 118.9±0.4, Gt 118.4±0.4 mmHg). SBP was significantly correlated with BMI (r = 0.324, p <0.0001), and with UNa(r = 0.138 p <0.0001). Offspring with hypertensive parents (34%) showed higher SBP values than peers with negative familiarity (122±0.6 vs120±0.4 mmHg, p=0.04).In the analysis of the genotypes the Lanosterol Synthasi (LSS) polymorphism, the enzyme involved in the synthesis of EO, was associated with increased DBP (LSS AA 69.2±0.6; LSS AC 68.3±0.3; LSS CC 66.7±0.3 mmHg, p <0.0001). Carriers of both mutated variants of ADD1 and ADD2 (ADD1GT/ADD2 CT, n=167) showed greater (p = 0.015) UNa(192.9±4.3 mEq/24h) than St with genetic variants ADD1 GG/ADD2 CC (n = 826, 185.2±1.9 mEq/24h). The urine albumin/creatinine ratio was higher (12.3±2.3) in St with ADD3 GG / ADD2 CT(n=54) than in St with ADD3 AA / ADD2 CC (n=442, 8.1±0.8 mg/dl; p=0.05).The UNa/UK was greater in St carrying LSS AA/CYP1A1 CC (4 ± 0.4) vs. LSS GG/CYP1A1 AA (3.2±0.3; P=0.05).


These results confirm the role of the Adducin-EO genetic network in HT and identify interactions among environmental factors (Na and K intake) and genetic polymorphisms linked to HT.


  • Government Support - Non-U.S.