Table 3.

Overview of investigated top SNPs implicated in GWAS of TS, OCD, ADHD, or ASD

TS GWAS SNPs	MAF	Gene name	CHR	Function	Sample size reference study	N of parent- child trios after quality control in present study	Reference
rs7868992	0.28	COL27A1	9	Calcification of cartilage and the transition of cartilage to bone	1285 cases / 4964 controls	371	[6]
rs621942	0.24	PICALM	11	Endocytosis	1894 cases / 5574 controls	192	[7]
rs6539267	0.27	POLR3B	12	DNA-dependent RNA polymerase	1285 cases / 4964 controls	371	[6]
rs4988462	0.44	POU1F1	3	Transcription factor	2723 cases / 5667 controls	179	[20]
rs7123010	0.27	ME3	11	Malate metabolism	1894 cases / 5574 controls		[7]
rs2060546a	0.01		12		1894 cases / 5574 controls		[7]
rs13063502	0.18		3		1285 cases / 4964 controls	371	[6]
rs769111	0.37		7		1285 cases / 4964 controls	179	[6]
rs7336083	0.33		13		1285 cases / 4964 controls	371	[6]
rs11603305	0.32		11		1894 cases / 5574 controls	192	[7]
rs11149058	0.22		13		2723 cases / 5667 controls	179	[20]
rs4271390a	0.22		11		2723 cases / 5667 controls		[20]
OCD GWAS SNPs
rs11081062	0.19	DLGAP1	18	Scaffold protein	1465 cases / 5557 controls / 400 parent-child trios	371	[21]
rs9499708	0.42		6		1465 cases / 5557 controls / 400 parent-child trios	179	[21]
rs9652236	0.15		13		1465 cases / 5557 controls / 400 parent-child trios	371	[21]
rs6131295	0.23		20		1465 cases / 5557 controls / 400 parent-child trios	371	[21]
rs297941a	0.44		12		1465 cases / 5557 controls / 400 parent-child trios		[21]
ADHD GWAS SNPs
rs2556378	0.18	BCL11A	2	Myeloid and B-cell proto-oncogene	495 cases / 1300 controls	179	[22]
rs12575642	0.15	FERMT3	11	Cell adhesion	465 trios	371	[23]
rs5016282	0.15	GRM5	11	Glutamate receptor	495 cases / 1300 controls	179	[22]
rs12037173	0.07	LRRC7	1	Cell adhesion, dendritic branching, and neuronal excitability	465 parent-child trios	179	[23]
rs11607165	0.15	STIP1	11	Response to stress	465 parent-child trios	371	[23]
ASD GWAS SNPs
rs1718101	0.07	CNTNAP2	7	Cell adhesion	2705 families	179	[24]
rs4675502	0.37	PARD3B	2	Cell division and cell polarization	2705 families	179	[24]
rs4150167a	0.04	TAF1C	16	Transcription factor	2705 families		[24]
rs4307059	0.37		5		780 families / 1204 cases / 6491 cases	179	[25]
rs13176113b	0.28		5		780 families / 1204 cases / 6491 cases	179	[25]
rs7834018	0.10		8		2705 families	371	[24]
rs7711337	0.40		5		2705 families	371	[24]

TS, Tourette syndrome; GWAS, genome-wide association study; OCD, obsessive-compulsive disorder; ADHD, attention-deficit/hyperactivity disorder; ASD, autism spectrum disorder; MAF, minor allele frequency (based on 1000 genomes); CHR, chromosome; COL27A1, Collagen, Type XXVII, Alpha 1; PICALM, Phosphatidylinositol Binding Clathrin Assembly Protein; POLR3B, Polymerase (RNA) III (DNA Directed) Polypeptide B; POU1F1, POU Class 1 Homeobox 1; ME3, Malic Enzyme 3; DLGAP1, Discs, Large (Drosophila) Homolog-Associated Protein 1; BCL11A, B-Cell CLL/Lymphoma 11A; FERMT3, Fermitin Family Member 3; GRM5, Glutamate Receptor, Metabotropic 5; LRRC7, Leucine Rich Repeat Containing 7; STIP1, Stress-Induced Phosphoprotein 1; CNTNAP2, Contactin Associated Protein-Like 2; PARD3B, Par-3 Family Cell Polarity Regulator Beta; TAF1C, TATA Box Binding Protein (TBP)-Associated Factor.

^aSNP did not pass standard quality control checks in PLINK V1.07 using the recommended parameters published in [29, 30].

^bOriginal GWAS reported results for rs7704909 that is in high LD (R²=1) with rs13176113.