Table S1. Description of the 400 SNPs initially selected for the SNPlex genotyping assays in all gene systems.

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1 Supplementary material for Toma C, Hervás A, Balmaña N, Salgado M, Maristany M, Vilella E, Aguilera F, Orejuela C, Cuscó I, Gallastegui F, Pérez-Jurado A. L, Caballero-Andaluz R, Diego-Otero de Y, Guzmán- Alvarez G, Ramos-Quiroga A. J, Ribasés M, Bayés M, Cormand B. Neurotransmitter systems and neurotrophic factors in autism: association study of 37 genes suggests involvement of DDC. The World J Boil Psychiatry 2011, doi: / Table S1. Description of the 400 SNPs initially selected for the SNPlex genotyping assays in all gene systems. Serotoninergic System 5HT1A (1) rs rs HT1B (1) rs rs6296 rs HT1D (1) rs rs rs HT1E (0.62) rs rs rs rs rs rs rs rs , rs , rs , rs , rs rs HT1F (1) rs rs HT2A (0.75) rs rs rs rs rs rs rs rs732821, rs731245, rs6311, rs6313, rs , rs , rs rs rs985933, rs985934, rs rs rs rs rs rs rs rs rs rs rs rs rs643627, rs , rs655854, rs655888, rs621494, rs622337, rs632903, rs rs rs , rs rs rs , rs rs rs , rs , rs rs rs rs rs & 3 5HT2B (0.75) rs rs rs

2 2 rs rs HT2C (0.88) rs rs543229, rs539748, rs556677, rs , rs , rs , rs , rs , rs , rs , rs , rs , rs , rs , rs , rs , rs , rs , rs , rs , rs , rs , rs , rs , rs , rs , rs , rs , rs , rs rs rs , rs , rs , rs , rs , rs , rs , rs , rs , rs rs rs478209, rs547536, rs539023, rs498207, rs569959, rs498177, rs , rs , rs , rs , rs , rs , rs , rs , rs , rs rs rs rs6318 & rs rs rs rs , rs rs rs HT3A (1) rs rs , rs , rs , rs948983, rs rs rs rs rs , rs rs HT3B (0.7) rs rs , rs rs rs , rs rs rs rs , rs rs rs rs rs rs rs rs HT4 (0.82) rs rs rs rs rs , rs , rs rs rs , rs rs rs rs , rs , rs , rs , rs , rs , rs , rs , rs , rs rs rs rs rs , rs , rs , rs , rs rs rs , rs ,

3 3 rs , rs , rs , rs , rs , rs , rs , rs , rs , rs , rs , rs , rs , rs rs rs rs rs rs rs , rs891962, rs , rs , rs , rs , rs , rs , rs rs rs rs , rs , rs , rs , rs , rs , rs , rs , rs rs rs , rs , rs rs rs , rs , rs , rs , rs , rs , rs , rs , rs , rs HT5A (0.71) rs rs rs rs rs , rs , rs731107, rs732050, rs , rs , rs rs rs rs HT6 (1) rs rs HT7 (1) rs rs , rs , rs , rs rs rs , rs , rs , rs , rs , rs , rs , rs , rs , rs , rs , rs , rs rs rs , rs , rs , rs , rs , rs , rs , rs , rs , rs , rs rs rs rs rs rs , rs , rs , rs , rs , rs , rs rs rs , rs ,rs , rs , rs rs rs rs rs rs SLC6A4 (0.5) rs rs , rs , rs25528, rs6354 rs rs rs & 3 rs

4 4 rs rs , rs , rs , rs , rs , rs , rs TPH1 (1) rs rs rs , rs , rs rs rs508924, rs685657, rs684302, rs169806, rs211107, rs , rs , rs rs rs Serotoninergic and Dopaminergic Systems DDC (0.8) rs rs , rs , rs rs rs , rs921451, rs921450, rs , rs , rs , rs , rs , rs rs rs rs , rs , rs , rs rs rs , rs , rs , rs998850, rs rs rs rs rs rs , rs , rs , rs , rs rs rs , rs , rs , rs rs rs rs rs , rs , rs , rs , rs , rs , rs , rs , rs , rs , rs , rs , rs , rs , rs , rs , rs , rs , rs , rs , rs rs rs , rs , rs , rs , rs rs rs rs rs , rs MAOA (1) rs rs , rs , rs , rs , rs979606, rs979605, rs , rs , rs , rs , rs rs rs MAOB (0.8) rs rs rs rs , rs , rs rs rs rs , rs Dopaminergic System DRD1 (0.87) rs rs rs rs rs686, rs rs rs rs

5 5 rs rs DRD2 (1) rs rs rs rs rs , rs rs rs rs , rs , rs , rs , rs rs rs , rs , rs , rs , rs , rs , rs , rs , rs , rs , rs , rs rs rs rs , rs , rs6275, rs rs rs rs DRD3 (0.63) rs rs rs6280 rs324026, rs rs rs rs rs226082,rs324030,rs , rs324029, rs324022, rs rs rs rs rs rs rs963468, rs rs rs DRD4 (0) rs rs rs , rs DRD5 (0.5) rs rs rs COMT (0.6) rs rs rs rs rs rs rs rs rs rs rs rs rs rs DBH (0.78) rs rs rs , rs279785, rs rs rs , rs , rs rs rs rs rs rs rs rs rs rs rs rs rs rs SLC6A3(0.55) rs

6 6 rs rs464061, rs456082, rs409588, rs458860, rs464528, rs463379, rs456774, rs rs37020 rs464049, rs rs rs rs rs rs rs TH (0.66) rs rs rs rs Neurotrophic Factors and their Receptors NGF (0.7) rs rs rs rs , rs rs rs rs rs rs rs rs rs rs rs , rs , rs , rs , rs rs rs , rs , rs rs rs rs rs , rs , rs rs rs , rs , rs , rs , rs , rs , rs , rs rs rs , rs , rs rs rs rs rs rs rs , rs , rs rs rs rs rs , rs rs rs6330, rs rs rs rs , rs , rs , rs , rs , rs BDNF (0.75) rs rs rs rs rs6265 rs rs rs , rs rs rs , rs , rs , rs , rs rs rs , rs , rs , rs , rs NTF3 (1) rs rs rs rs

7 7 rs rs NTF4/5 (1) rs rs rs CNTF (1) rs rs rs663721, rs rs rs , rs , rs NTRK1 (0.6) rs rs rs , rs rs rs , rs , rs , rs , rs , rs rs rs , rs , rs , rs rs rs , rs , rs rs rs rs rs rs & 4 rs rs rs rs rs NTRK2 (0.76) rs rs , rs , rs , rs rs rs , rs , rs993315, rs , rs rs rs rs rs rs , rs , rs , rs , rs , rs , rs , rs , rs rs rs , rs rs rs , rs rs rs , rs , rs rs , rs893582, rs , rs , rs , rs , rs , rs rs rs rs rs , rs , rs , rs , rs , rs , rs , rs , rs , rs rs rs , rs , rs , rs rs rs rs rs720141, rs , rs , rs rs rs7816 rs , rs , rs , rs , rs rs , rs , rs729705, rs , rs rs rs rs rs rs

8 8 rs rs , rs , rs rs rs rs rs , rs rs rs , rs rs rs rs , rs rs rs , rs rs rs rs rs , rs rs rs rs rs rs , rs , rs , rs rs rs rs rs rs rs , rs , rs , rs , rs , rs , rs , rs , rs , rs rs rs s , rs , rs , rrs rs rs rs rs rs rs rs , rs , rs rs rs rs , rs rs rs rs rs , rs , rs NTRK3 (0.83) rs rs rs rs rs rs rs rs rs rs rs , rs , rs , rs , rs , rs , rs , rs , rs , rs , rs , rs , rs , rs , rs , rs , rs , rs rs rs rs rs rs rs rs rs rs rs rs rs rs , rs , rs rs rs , rs

9 9 rs rs rs rs , rs rs rs rs ,, rs , rs , rs , rs , rs rs rs rs rs rs rs rs rs rs , rs rs rs rs rs , rs rs rs rs , rs rs rs rs rs rs rs rs rs rs rs rs rs rs rs rs rs rs rs rs rs rs rs rs rs rs rs rs rs rs rs rs rs NGFR (0.66) rs rs rs rs rs rs rs rs * 3 rs rs741071* 5 rs rs CNTFR (08) rs rs rs * 3 rs , rs rs

10 10 rs rs * 4 rs , rs rs rs * 1 rs rs rs rs rs rs rs rs rs rs rs SNP*n: Excluded for one of the following reasons: 1 TagSNP in Linkage Disequilibrium with another one across the gene in our sample of 350 controls; 2 Not in Hardy-Weinberg equilibrium in the control sample (p<0.01); 3 Monomorphic or MAF<0.10; 4 Genotyping Failure; 5 Not passing through the SNPlex design pipeline. SNP & : Non-synonymous SNPs additionally included in the tagsnps list. a Gene Coverage= tag SNPs analyzed/total of tag SNPs per gene. b HWE test performed in the control sample. c p value calculated using the Cochran-Armitage Trend Test (ATT). Table S2. Assessment of population stratification using 46 unlinked SNPs in our sample of 326 cases and 350 controls with the STRUCTURE v2.3 software. Number of subpopulations (K) LnP(D) a SD [Ln(P)] b Posterior probability of K c e e e e-81 a Ln of the probability of the data, calculated as an average of five independent iterations, with burning period and number of MCMC repeats set to 100,000. An admixture ancestry model with correlated allele frequencies (l=1) was assumed. b Standard Deviation of the five LnP(D) iterations. c Calculated using Bayes rule.

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