Table S3. DRD2 Schizophrenia Risk-Associated Snps And/Or Snps Associated with DRD2 Expression

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Table S3. DRD2 Schizophrenia Risk-Associated Snps And/Or Snps Associated with DRD2 Expression

Table S3. DRD2 schizophrenia risk-associated SNPs and/or SNPs associated with DRD2 expression and cognitive performance

SNP name SNP description Risk allele Effect on DRD2 expression and/or major/minor allele cognitive performance Type Location rs2242592 T/C C1 N/A Intergenic DRD2-ANKK1 rs6277 C/T C2 T allele is associated with decreased synonymous expression of DRD2 3 Exon 7 DRD2 rs6275 C/T T2 N/A Synonymous Exon 7 DRD2 rs1801028 C/G C2 N/A Cys to Ser Exon 7 DRD2 rs1076560 A/C A allele is associated with decreased Intronic expression of D2S Intron 6 DRD2 A allele is associated with impaired working memory4, 5 rs2283265 G/T G6 T allele is associated with decreased Intronic expression of D2S Intron 5 DRD2 T allele is associated with impaired working memory4, 5 rs1079727 A/G A6 N/A Intronic Intron 2 DRD2 rs1799732 -141C Ins/Del -141C Ins2 -141 Del allele is associated with Missense decreased expression of DRD27 Promotor DRD2 rs12364283 T/C C allele is associated with Increased Exogenous expression of DRD24, 5 Upstream DRD2 N/A: data not available

1. Dubertret C, Bardel C, Ramoz N, Martin PM, Deybach JC, Adès J et al. A genetic schizophrenia-susceptibility region located between the ANKK1 and DRD2 genes. Prog Neuropsychopharmacol Biol Psychiatry 2010; 34(3): 492-499. 2. Allen NC, Bagade S, McQueen MB, Ioannidis JP, Kavvoura FK, Khoury MJ et al. Systematic meta-analyses and field synopsis of genetic association studies in schizophrenia: the SzGene database. Nat Genet 2008; 40(7): 827-834.

3. Lawford BR, Young RM, Swagell CD, Barnes M, Burton SC, Ward WK et al. The C/C genotype of the C957T polymorphism of the dopamine D2 receptor is associated with schizophrenia. Schizophr Res 2005; 73(1): 31-37.

4. Bertolino A, Fazio L, Caforio G, Blasi G, Rampino A, Romano R et al. Functional variants of the dopamine receptor D2 gene modulate prefronto-striatal phenotypes in schizophrenia. Brain 2009; 132(Pt 2): 417-425.

5. Zhang Y, Bertolino A, Fazio L, Blasi G, Rampino A, Romano R et al. Polymorphisms in human dopamine D2 receptor gene affect gene expression, splicing, and neuronal activity during working memory. Proc Natl Acad Sci U S A 2007; 104(51): 20552-20557.

6. Glatt SJ, Faraone SV, Lasky-Su JA, Kanazawa T, Hwu HG, Tsuang MT. Family-based association testing strongly implicates DRD2 as a risk gene for schizophrenia in Han Chinese from Taiwan. Mol Psychiatry 2009; 14(9): 885-893.

7. Arinami T, Gao M, Hamaguchi H, Toru M. A functional polymorphism in the promoter region of the dopamine D2 receptor gene is associated with schizophrenia. Hum Mol Genet 1997; 6(4): 577-582.

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