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. 2015 Sep 24;42(2):288–300. doi: 10.1093/schbul/sbv135

Table 1.

Top Association Results for ABF and Schizophrenia at 5q32–35.3

Function Prediction ABF Schizophrenia
dbSNP 137 Position (bp) Gene MAF SIFT PolyPhen2 Beta (SE) P Value Beta (SE) P Value
rs6579797a 149998128 SYNPO 0.032 Tolerated Benign −2.01 (0.48) 3.7×10−5c 1.84 (0.63) .0017c
rs17660042 150666946 SLC36A3 0.073 Deleterious Probably damaging −1.02 (0.32) .0018 0.94 (1.00) .010
rs2303063 147480027 SPINK5 0.47 Tolerated Benign 0.41 (0.18) .023 −0.52 (1.03) .033
rs2303067 147480955 SPINK5 0.47 Tolerated Benign 0.41 (0.18) .023 −0.52 (1.03) .033
rs2961944 159835658 SLU7 0.20 Tolerated Benign −0.40 (0.18) .027 0.49 (0.24) .037
rs61740602 150646888 GM2A 0.12 Tolerated Benign −0.56 (0.26) .028 0.79 (0.29) .0068
rs17551608b 167835539 WWC1 0.19 Deleterious Possibly damaging 0.42 (0.21) .041 −1.09 (0.39) .0016c

Note: The table lists nonsynonymous variants from 5q32–35.3 with at least nominal evidence (P < .05) for association with ABF and schizophrenia. SNP rs numbers are based on dbSNP build 137. MAFs are based on maximum likelihood estimates that account for familial relationships. Predicted effects of amino acid changes on protein function are based on the SIFT and PolyPhen2 algorithms, which were obtained with the Ensembl online tool Variant Effect Predictor (VEP). For the association results, positive beta estimates (SE in parentheses) for schizophrenia correspond to increased risk. All 7 of the SNP variants presented here show the expected directions of effect for the 2 traits (ie, decrease in ABF performance corresponds with an increase in schizophrenia risk, and vice versa). ABF, Abstraction and Mental Flexibility; MAFs, Minor Allele Frequencies;

aG199A; aspartic acid substituted for asparagine, D67N.

bC798T; arginine substituted for cysteine, R250C.

cSignificant after Bonferroni correction for multiple testing (α = .05): 407 tests for ABF; 24 tests for risk of schizophrenia.