TABLE 3.

Identified genetic variants in the investigated study groups. The results include the screening groups of 192 children and adolescents with severe obesity as well as 192 patients with AN and 192 healthy-lean controls. The sample sizes may vary if the variant was genotyped in an additional confirmation group consisting of 781 trios with severe obesity, 320 independent children and adolescents with severe obesity, and 253 healthy-lean control samples (see Table 2). Non-synonymous variants are shown in bold. The represented minor allele is based on the forward strand (*). 11: Homozygous wild type; 12: heterozygous, 22: homozygous alternative allele. MAF: minor allele frequency.

Gene	Variant	Minor allele*	Amino acid exchange	Study group	Patients with obesity				Patients with AN				Healthy-lean controls
					11	12	22	MAF	11	12	22	MAF	11	12	22	MAF
CKB	rs762206402	C	Pro112=	Screening	191	1	0	0.003	192	0	0	0	192	0	0	0
	rs1136165	G	Arg152=	Screening	31	88	73	0.39	28	88	76	0.38	29	96	67	0.40
	rs200890896	G	Ala175=	Screening	192	0	0	0	191	1	0	0.003	192	0	0	0
	rs146047573	C	Tyr269Cys	Screening	191	1	0	0.003	192	0	0	0	192	0	0	0
				Confirmation	1,100	1	0	0.0005	-	-	-	-	253	0	0	0
				Both	1,291	2	0	0.0008	-	-	-	-	445	0	0	0
	rs1803283	C	Glu364=	Screening	30	84	78	0.38	25	91	76	0.37	28	92	72	0.39
CKMT1B	g.43595061C/T	T	Thr79=	Screening	190	2	0	0.005	-	-	-	-	190	2	0	0.005
	g.43595385C/T	T	Asp120=	Screening	191	1	0	0.003	-	-	-	-	192	0	0	0
	g.43595451G/A	A	Thr142=	Screening	191	1	0	0.003	-	-	-	-	192	0	0	0
	rs1230355611	T	Arg184Stop	Screening	192	0	0	0	-	-	-	-	191	1	0	0.003
				Confirmation	1,100	1	0	0.0005	-	-	-	-	253	0	0	0
				Both	1,292	1	0	0.0004	-	-	-	-	444	1	0	0.001
	rs758572075	C	Val191Ala	Screening	191	1	0	0.003	-	-	-	-	190	2	0	0.005
				Confirmation	1,100	1	0	0.0005	-	-	-	-	253	0	0	0
				Both	1,291	2	0	0.0008	-	-	-	-	443	2	0	0.002
	rs9571	G	Lys352=	Screening	188	4	0	0.01	-	-	-	-	188	4	0	0.01
	rs13234	C	Ala362=	Screening	187	5	0	0.013	-	-	-	-	184	7	1	0.02
	rs149544188	A	Arg399His	Screening	190	2	0	0.005	-	-	-	-	191	1	0	0.003
				Confirmation	1,090	11	0	0.005	-	-	-	-	250	3	0	0.006
				Both	1,280	13	0	0.005	-	-	-	-	441	4	0	0.004
	rs144820945	G	Gly403=	Screening	188	4	0	0.01	-	-	-	-	188	4	0	0.01
GATM	rs1288775	A	Gln110His	Screening	99	81	12	0.27	-	-	-	-	95	83	14	0.29
	rs146057680	C	Asp234Val	Screening	192	0	0	0	-	-	-	-	191	1	0	0.003
	rs773358289	A	Pro287Ser	Screening	192	0	0	0	-	-	-	-	191	1	0	0.003
	rs747005297	C	His292Arg	Screening	191	1	0	0.003	-	-	-	-	192	0	0	0
	rs1145086	T	Leu418=	Screening	69	93	30	0.40	-	-	-	-	68	94	30	0.40