Analyses of non-synonymous obesity risk alleles in SH2B1 (rs7498665) and APOB48R (rs180743) in obese children and adolescents undergoing a 1-year lifestyle intervention

Exp Clin Endocrinol Diabetes. 2013 Jun;121(6):334-7. doi: 10.1055/s-0033-1334875. Epub 2013 Mar 21.


Association of obesity risk alleles of single nucleotide polymorphisms (SNPs) near or in the SH2B adaptor protein 1 gene (SH2B1) and increased body mass index (BMI) has been often described. A gene in close proximity, apolipoprotein B48 receptor gene (APOB48R), is tagged by the same SNP(s).We analyzed 454 overweight and obese children and adolescents (10.8±2.6 years, BMI-SDS 2.4±0.5; 55% girls) who completed a 1-year lifestyle intervention ('Obeldicks' program). Carriers of obesity risk alleles of non-synonymous SNPs in SH2B1 (rs7498665, Thr484Ala) or APOB48R (rs180743, Pro419Ala), as genotyped by TaqMan, were analysed for changes in anthropometrics (body-mass index (BMI), and standardized BMI (BMI-SDS)), blood pressure (systolic and diastolic) and plasma parameters (total cholesterol, LDL-cholesterol, HDL-cholesterol, triacylglycerides, glucose, insulin, and HOMA).We observed no evidence for an association of the obesity risk alleles to alterations in any of the analyzed phenotypes. Both mean BMI and BMI-SDS improved during the intervention independent of genotype. The mean systolic blood pressure was lowered and concentrations of HDL-cholesterol increased significantly.The obesity risk alleles of non-synonymous SNPs at SH2B1 and APOB48R have no strong effect on weight loss-related phenotypes in overweight children after a 1-year lifestyle intervention.

Trial registration: NCT00435734.

Publication types

  • Clinical Trial
  • Multicenter Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adaptor Proteins, Signal Transducing / blood
  • Adaptor Proteins, Signal Transducing / genetics*
  • Adolescent
  • Alleles
  • Blood Glucose / metabolism
  • Blood Pressure
  • Body Mass Index
  • Child
  • Cholesterol, LDL / blood
  • Female
  • Humans
  • Insulin / blood
  • Male
  • Obesity / blood
  • Obesity / genetics*
  • Obesity / physiopathology
  • Polymorphism, Single Nucleotide*
  • Receptors, Lipoprotein / blood
  • Receptors, Lipoprotein / genetics*
  • Risk Factors
  • Triglycerides / blood


  • Adaptor Proteins, Signal Transducing
  • Blood Glucose
  • Cholesterol, LDL
  • Insulin
  • Receptors, Lipoprotein
  • SH2B1 protein, human
  • Triglycerides

Associated data