Table 3.

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

SNP	MAF	Gene name	CHR	Function	Sample size reference study	No. of parent–child trios after quality control in present study	References
TS GWAS SNPs
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 (R ² = 1) with rs13176113