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Table 1 Phenotypic description of analyzed study groups

From: Mutation screen in the GWAS derived obesity gene SH2B1including functional analyses of detected variants

Samplea status n % male [%] age [mean ± SD] BMI [mean ± SD] BMI SDSb [mean ± SD]
Mutation Screen Cases 95 48.42 13.43 ± 3.37 31.87 ± 5.04 4.10 ± 1.71
S I : family-based GWAS Cases 705 45.11 13.44 ± 3.02 32.02 ± 5.82 4.23 ± 1.96
  Parents 1,410 50.00 42.54 ± 6.02 30.28 ± 6.33 1.65 ± 1.84
S II : case–control GWAS Cases 453 42.60 14.37 ± 3.75 33.15 ± 6.68 4.51 ± 2.15
  Controls 435 39.08 26.08 ± 5.75 18.09 ± 1.14 −1.45 ± 0.34
S III : subset of case–control GWAS  (for association testing) Cases 179 49.16 14.27 ± 2.39 35.56 ± 6.13 5.3 ± 2.09
Controls 185 55.68 25.56 ± 3.94 18.39 ± 1.09 −1.47 ± 0.33
S IV : obese adults Cases 988 37.25 47.17 ± 14.23 35.70 ± 5.43 3.22 ± 1.66
S V : DAPOC Cases 1,185 44.22 10.72 ± 2.78 27.69 ± 5.11 3.07 ± 1.56
S VI : KORA Cases 6.633 56,43 56.62 ± 13.13 29.42 ± 3.70 1.19 ± 1.09
  Controls 3.444 36,76 47.18 ± 13.37 22.72 ± 1.68 −0.53 ± 0.51
S VII : Ulm children’s study 1 Cases 97 57.73 7.57 ± 0.42 20.68 ± 1.71 1.06 ± 0.46
  Controls 685 54.31 7.56 ± 0.42 15.63 ± 1.38 −0.25 ± 0.37
S VIII : BEPOC Cases 1,046 47.99 10.89 ± 3.57 29.46 ± 5.91 3.54 ± 1.82
S IX : Ulm children’s study 2 Cases 271 51.29 11.07 ± 3.69 29.75 ± 6.04 3.62 ± 1.88
S X : Ulm children’s study 3 Cases 129 43.41 14.90 ± 1.84 40.45 ± 8.00 7.05 ± 2.92
  1. aMutation Screen sample: part of the family-based and the case–control GWAS samples’ cases; Family-based GWAS sample: 705 index patients with early-onset extreme obesity and their biological parent; case–control GWAS sample: GWAS of early-onset extremely obese children and adolescents in comparison to lean, adult controls; case–control sample for association testing: early-onset extremely obese children and adolescents in comparison to lean, adult controls; independent of initial screening sample; subset of cases-control GWAS sample; DAPOC: Datteln Paediatric Obese Cohort (27); KORA: Cooperative Health Research in the Region of Augsburg (30); Ulm children’s study 1: Ulm Research on Metabolism, Exercise and Lifestyle in Children (31); BEPOC: Berlin Paediatric Obese Cohort (28); Ulm children’s study 2 and 3: Ulm Paediatric Obese Cohort A and B (INSULA) (29).
  2. bCalculation of the BMI SDS values has been based on population reference values following the National Nutrition Survey I (25).