Table 1.
Significant up- and down-regulated genes from SAM analysis of microarray experiments on 3 sets of monozygotic twins discordant for autism diagnosis with log2(ratio) ≥ ± 0.58
| Genbank# | Gene name or description | Mean log2(ratio)* | qPCR¥ |
| Upregulated (log2(ratio) ≥ 0.58) | |||
| R45254 | Unknown protein | 1.19 | |
| AA448599 | F13A1, clotting factor XIIIa precursor | 1.08 | 1.05 |
| AA676466 | ASS, argininosuccinate synthetase (aa 1–412) | 0.92 | |
| AA992985 | Unknown protein | 0.88 | |
| AA676405 | ASS, argininosuccinate synthetase (aa 1–412) | 0.85 | 1.47 |
| W07099 | NAGLU, N-acetylglucosaminidase, alpha | 0.85 | -0.28 |
| AA044267 | P2X5a | 0.80 | |
| T49652 | FLAP, ALOX5AP | 0.79 | 1.01 |
| H57830 | histone H1(0) (aa 1–194) | 0.78 | |
| R00276 | CD38 alt | 0.76 | |
| AA488070 | Unknown protein | 0.75 | |
| W69399 | histone H1(0) (aa 1–194) | 0.74 | |
| H09567 | PAG1 | 0.74 | |
| AA609189 | Unknown protein | 0.73 | |
| H02307 | FLAP, ALOX5AP | 0.70 | |
| N50114 | PAG1 | 0.69 | |
| AI091671 | Unknown protein | 0.67 | |
| N70181 | PLEKHG1 | 0.66 | |
| H24011 | Homeodomain-like protein | 0.64 | |
| AA412520 | Unknown protein | 0.63 | |
| AA521362 | CR2 receptor | 0.62 | |
| AI371096 | DAPK1, death-associated protein kinase 1 | 0.62 | 0.65 |
| T61343 | IL6ST, IL6 signal tranducer, gp130 | 0.59 | 0.58 |
| N29918 | ZBTB10 | 0.59 | |
| T90067 | EIF2C2 | 0.59 | 0.99 |
| Downregulated (log2(ratio) ≤ -0.58) | |||
| T67053 | IGLC2 | -2.39 | |
| W73790 | IGLL1 | -2.00 | |
| H18423 | Unknown protein | -1.98 | |
| AA448157 | CYP1B1 | -0.95 | |
| AA644099 | Unknown protein | -0.89 | |
| AA933744 | ECAT11 | -0.84 | |
| AI018127 | Unknown protein | -0.83 | |
| AA451886 | CYP1B1 | -0.77 | |
| AA682565 | Unknown protein from neuroblastoma | -0.72 | |
| AI223429 | Unknown protein | -0.69 | |
| AA450353 | ELMOD1 | -0.69 | |
| AA873578 | IGHG1 | -0.67 | |
| R33402 | SAMSN1 | -0.67 | -0.61 |
| AA173755 | ROBO1, roundabout 1 | -0.66 | -0.93 |
| AA022886 | retinal degeneration B beta | -0.64 | |
| AA063573 | SAMSN1 | -0.64 | |
| H99699 | mitochondrial aconitase | -0.63 | |
| AI290663 | CYBASC3 | -0.60 | |
| AA449333 | Rab22b | -0.58 |
*Mean log2(ratio) of gene expression in lymphoblastoid cell lines from children exhibiting classic autism to cell lines from less affected monozygotic twin sibs. SAM analysis revealed 1200 significant genes with an FDR of 26.4%. Only genes for which microarray data is available for all 3 sets of twins are included in this table.
¥Mean log2(ratio) of qPCR data from 3 sets of monozygotic twins. Gene expression was analyzed in triplicate assays (or duplicate for F13A1, EIF2C2, and SAMSN1) and the mean log2(ratio) for each respective gene was averaged among the 3 sets of twins. Only one gene, NAGLU, out of the 9 tested from this table was not confirmed by qPCR, possibly because of suboptimal choice of primers for qPCR.
Genes in boldface type have been shown to be relevant to neurological development, structure, or function (See Table 3).