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

BMC Medical Genomics

Table 1 Phenotypic description of analyzed study groups

Sample^a	status	n	% male [%]	age [mean ± SD]	BMI [mean ± SD]	BMI SDS^b [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

^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).
^bCalculation of the BMI SDS values has been based on population reference values following the National Nutrition Survey I (25).

ISSN: 1755-8794