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. 2009 Sep 4;18(23):4650–4661. doi: 10.1093/hmg/ddp413

Table 3.

Sample sizes, covariates and top hits for the 11 phenotypes

Phenotype n Covariatesa Top hit rs Number Closest gene Type of variant Notes
PAL total errors 6 patterns 764 Siteb 1.01E−07 rs5934953 HCCS 81 kb upstream Fifth from top at P = 3 × 10−6 is a 3′-UTR SNP in GRIP2, a gene involved in synaptic plasticity (83)
PAL total errors 8 patterns 718 Education 1.16E−07 rs11856323 COR2B Intronic
SWM between for 8 box stage 784 ESL, site, battery 2.86E−07 r s2326017 AC103702.3 11 kb upstream Fifteenth from top is an intronic SNP in NRXN1, P = 1.3 × 10−5. Rare NRXN1 deletions have been associated with schizophrenia (6,62,64) and autism (61,65)
SWM strategy 721 ESL, education, siteb, battery 6.30E−06 rs4472969 FXYD2 1.5 kb upstream Fourth from top was an intronic SNP in SHANK3, P = 1.9 × 105. Rare genetic variants affecting SHANK3 have been associated with autism (61,84,85) and possibly epilepsy (61)
IED EDS errors 743 ESL, site 1.69E−06 rs6592284 c11orf73 Intronic Top hit is also close to ME3 which shows expression changes in a rat model of schizophrenia (86). Third from top at P = 1.9 × 10−5 was an intronic GRIN2B SNP. Overexpression of GRIN2B in mice enhances cognition (87)
RVP probability of a hit 782 ESL, site, battery 2.17E−06 rs6056209 PLCB1 intronic PLCB1 knockout mice are used as schizophrenia models (88)
PRM percent correct 740 Education, siteb, battery 3.23E−07 rs2203512 AC092725.3 88 kb downstream
SSP span length 714 Education, siteb, battery 1.00E−06 rs7729273 AC091951.3 71 kb downstream
SRM percent correct 1227 Siteb, battery, length 5.89E−07 rs2229741 NRIP1 synonymous coding Second strongest hit is intronic hit in GABRB3, P = 1.9 × 10−6. GABRB3 knockout mice have seizures, cognitive deficits and behavioral problems (89)
VRM free recall 1235 Education, battery 3.94E−06 rs4258076 SLC24a2 Intronic Fifth from top is intronic hit in GRM7, 1.3 × 10−5. GRM7 knockout and transgenic mice show memory deficits (9096)
PC1 707 Education, site, battery 2.76E−06 rs4082514 AC009117.8 108 kb upstream Sixteenth from top is intronic SNP in NRXN1, rs4971648, P = 3 × 10−5 (see above)

aSex and age were included as covariates in all analyses.

bLondon only, NC State and Duke scores did not differ; ESL: English learned as a second language, battery: whether the subject performed the original or the modified CANTAB battery, length: whether the subject performed the complete battery or just SRM and VRM.