Table S3. DRD2 schizophrenia risk-associated SNPs and/or SNPs associated with DRD2
expression and cognitive performance
SNP name
rs2242592
rs6277
rs6275
rs1801028
rs1076560
rs2283265
rs1079727
SNP description
major/minor allele
Type
Location
T/C
Intergenic
DRD2-ANKK1
C/T
synonymous
Exon 7 DRD2
C/T
Synonymous
Exon 7 DRD2
C/G
Cys to Ser
Exon 7 DRD2
A/C
Intronic
Intron 6 DRD2
Risk allele
Effect on DRD2 expression and/or
cognitive performance
C1
N/A
C2
T allele is associated with decreased
expression of DRD2 3
T2
N/A
C2
N/A
G/T
Intronic
Intron 5 DRD2
G6
A allele is associated with decreased
expression of D2S
A allele is associated with impaired
working memory4, 5
T allele is associated with decreased
expression of D2S
T allele is associated with impaired
working memory4, 5
N/A
A/G
Intronic
Intron 2 DRD2
rs1799732
-141C Ins/Del
Missense
Promotor DRD2
rs12364283
T/C
Exogenous
Upstream DRD2
N/A: data not available
A6
-141C Ins2
-141 Del allele is associated with
decreased expression of DRD27
C allele is associated with Increased
expression of DRD24, 5
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.