Table 1.

Overview of investigated individual candidate SNPs previously implicated in TS, OCD, or ASD after quality control check including findings of reference studies^a

SNP ID	MAF	Gene Name	CHR	Gene function	Type of reference study	Sample size reference study	χ2 statistic reference study	OR reference study	N of parent- child trios after quality control in present study	Power in present studyb	Reference
Implicated in TS
rs1800497	0.18	ANKK1/DRD2	11	Serine / Threonine kinase	Case-control	147 TS / 314 controls	19.4		179		[3]
rs9357271c	0.24	BTBD9	6	Protein-protein interactions	Case-control	322 TS / 290 controls	8.02		371		[32]
rs11264126	0.49	DLGAP3	1	Post-synaptic scaffolding protein	TDT	289 parent-child trios		1.41	371	0.91	[33]
rs12141243	0.11	DLGAP3	1	Post-synaptic scaffolding protein	TDT	289 parent-child trios		1.04	179	<0.10	[33]
rs6279	0.31	DRD2	11	Dopamine receptor	TDT	69 parent-child trios	11.5		179		[34]
rs1079597	0.11	DRD2	11	Dopamine receptor	TDT	69 parent-child trios	11.5		371		[34]
rs4648318	0.25	DRD2	11	Dopamine receptor	TDT	69 parent-child trios	11.5		371		[34]
rs854150	0.36	HDC	15	Histamine synthesis	TDT	520 TS families	8.13		179		[35]
rs518147	0.37	HTR2C	X	Serotonin receptor	Case-control	87 TS / 311 controls		2.50	179	0.99	[36]
rs3813929	0.18	HTR2C	X	Serotonin receptor	Case-control	87 TS / 311 controls		1.89	371	0.99	[36]
rs6347	0.24	SLC6A3/DAT1	5	Dopamine transporter	Case-control	266 cases / 236 controls	8.40	1.78f	179	0.92	[37]
rs9593835g	0.26	SLITRK1	13	Neurite outgrowth	TDT	154 TS families	6.22	1.66h	371	0.99	[38]
rs9531520	0.19	SLITRK1	13	Neurite outgrowth	TDT	154 TS families	6.22	1.45h	179	0.55	[38]
rs3744161	0.46	TBCD	17	Tubulin folding protein	TDT	100 TS families			179		[39]
rs662669	0.42	TBCD	17	Tubulin folding protein	TDT	100 TS families			179		[39]
rs4565946	0.49	TPH2	12	Serotonin synthesis	Case-control	98 TS / 178 controls		1.95 / 1.65k	371	0.99 / 0.99k	[31]
rs4570625	0.2	TPH2	12	Serotonin synthesis	Case-control	98 TS / 178 controls		1.95 / 1.65k	371	0.99 / 0.98k	[31]
Implicated in related disorders
rs4680	0.47	COMT	22	Dopamine degradation	Meta-analysis	47,358 cases OCD/ 68,942 controls / 2433 OCD parent-child trios			371		[40]
rs7794745	0.31	CNTNAP2	7	Cell adhesion molecule	TDT	145 autism parent-child trios and 78 sib-pairs			371		[41]

TS, Tourette syndrome; OCD, obsessive-compulsive disorder; ASD, autism spectrum disorder; MAF, minor allele frequency (based on the HapMap-CEU population); CHR, chromosome; OR, odds ratio; ANKK1, Ankyrin Repeat And Kinase Domain Containing 1; DRD2, dopamine receptor D2; BTBD9, BTB (POZ) Domain Containing 9; CNTNAP2, Contactin Associated Protein-Like 2; DLGAP3, Discs, Large (Drosophila) Homolog-Associated Protein 3; TDT, transmission disequilibrium test; HDC, l-histidine decarboxylase; 5-HT receptor 2C; SLC6A3, solute carrier family 6, dopamine transporter; DAT1, Dopamine Transporter 1; SLITRK1, SLIT And NTRK-Like Family, Member 1; TBCD, Tubulin Folding Cofactor; TPH2, tryptophan hydroxylase 2; COMT, Catechol-O-Methyltransferase.

^aAll SNPs passed standard quality control checks in PLINK V1.07 using the recommended parameters published in [29, 30].

^bWhen the reference study had provided an odds ratio, we calculated the power in the present study, based on the number of available parent-child trios for each SNP (Table S2), the reported minor allele frequency, odds ratio in the reference study, and α=0.05 (see also Table S3).

^cThis SNP is in high LD (R²>0.8) with the implicated SNPs rs4714156 and rs9296249.

^drs11264126 was nominally significant and together with rs12141243 nominally significant in two haplotypes.

^eResults reported for the haplotype analysis of the reference study.

^fOdds ratio reported for the genotypic comparison of the AG versus the AA genotype.

^gThis SNP is in high LD (R²>0.8) with the implicated SNP rs9546538.

^hOdds ratios were obtained from the single marker analysis.

ⁱThe results of the single marker analysis followed by the results of haplotype analysis (the haplotype that contains SNPs rs9593835, rs9531520, and rs9546538).

Results reported for multiple families.

^kResults reported of the haplotype-based analysis of two haplotypes containing rs4565946 and rs457062.

^lBased on a meta-analysis of 25 datasets.