RESEARCH Category Pathway Biological process KEGG GO PANTHER Table 3. Enriched biological processes and pathways in the genes containing I1 (TG/CA)n repeats Database Database ID Name Count hsa:04020 GO:0030001 GO:0030182 GO:0006812 GO:0015672 BP00143 BP00142 BP00044 BP00071 BP00040 BP00102 BP00141 BP00019 BP00112 BP00063 BP00284 BP00124 BP00199 BP00286 BP00064 BP00111 BP00060 Calcium signalling pathway Metal ion transport Neurone differentiation Cation transport Monovalent inorganic cation transport Cation transport Ion transport mRNA transcription regulation Proteolysis mRNA transcription Signal transduction Transport Lipid, fatty acid and steroid metabolism Calcium-mediated signalling Protein modification Haematopoiesis Cell adhesion Neurogenesis Cell structure Protein phosphorylation Intracellular signalling cascade Protein metabolism and modification 160 90 105 16 25 18 28 21 97 57 75 34 24 15 53 6 18 25 59 43 24 54 P 2.10E-04 1.20E-05 1.40E-05 2.20E-05 2.50E-05 6.20E-11 4.10E-07 8.90E-07 4.60E-05 8.50E-05 1.20E-04 3.40E-04 4.10E-04 9.50E-04 9.90E-04 1.10E-03 1.20E-03 1.80E-03 2.40E-03 2.90E-03 3.20E-03 3.40E-03 Zhang et al. FDR 4.10E-02 3.10E-02 1.80E-02 1.90E-02 1.60E-02 1.40E-08 4.50E-05 6.50E-05 2.50E-03 3.70E-03 4.50E-03 1.10E-02 1.10E-02 2.10E-02 2.00E-02 2.10E-02 2.10E-02 2.80E-02 3.50E-02 3.90E-02 4.00E-02 4.10E-02 insulin-like growth factor binding protein 4 [IGFBP4]) with highly variable gene-level expression based on a public microarray expression dataset15 in the unrelated CEU samples were genotyped. Table S3 in the supplementary material shows the relative lengths of repeats of the 59 unrelated CEU samples. The data from microsatellite analysis showed that the I1 repeats of these genes were polymorphic. Table 4 shows the summary of the genotyping results. RUNX and IGFBP4 did not follow the HWE and are therefore not listed in Table 4. All the other genes followed the HWE (Fisher’s exact test, p , 0.05). Three PCR products of INSR and CLMN were 242 # HENRY STEWART PUBLICATIONS 1479–7364. HUMAN GENOMICS. VOL 3. NO. 3. 236–245 APRIL 2009