Table 1.
SNP | Chromosome Position (bp – B36) | Gene | Alleles (A1/A2) | A1 CEPH Frequency | Typed Strand | p Quant | Effect Size | Heritability | p Emp QTDT | p Case-Cont | Frequency of A1 Cases | Frequency of A1 Controls | Odds ratio (95% CI) | p Emp PLINK |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
rs8051754 | 78,554,834 | intergenic | T/C∗ | 0.46 | − | 0.0931 | −0.28 ± 0.11 | 0.019 | 0.0892 | 0.0007∗ | 0.64 | 0.85 | 3.1 (1.6–6.0) | 0.0018∗ |
rs4417561 | 78,568,860 | intergenic | G∗/C | 0.26 | − | 0.0244 | −0.30 ± 0.11 | 0.022 | 0.0252 | 0.0004∗ | 0.37 | 0.15 | 3.2 (1.7–6.3) | 0.0011∗ |
rs2316184 | 79,204,885 | CDYL2 | G/A∗ | 0.14 | + | 0.0032∗ | -0.48 ± 0.12∗ | 0.045 | 0.0034∗ | 0.0096∗ | 0.15 | 0.30 | 2.5 (1.2–4.9) | 0.0126 |
rs12927866 | 80,209,823 | CMIP | A/G∗ | 0.47 | − | 0.4104 | −0.27 ± 0.10 | 0.019 | 0.3581 | 0.0003∗ | 0.29 | 0.49 | 2.4 (1.5–3.9) | 0.0004∗ |
rs4265801 | 80,222,553 | CMIP | T∗/G | 0.43 | + | 0.3446 | −0.09 ± 0.09 | 0.030 | 0.5065 | 4 × 10−5∗ | 0.61 | 0.29 | 3.9 (2.0–7.6) | 0.0393∗ |
rs7201632 | 80,234,949 | CMIP | C/T∗ | 0.49 | + | 0.8966 | −0.25 ± 0.09 | 0.017 | 0.7975 | 0.0004∗ | 0.36 | 0.56 | 2.3 (1.4–3.7) | 0.0004∗ |
rs3785054 | 82,918,978 | WFDC1 | C∗/T | 0.36 | − | 0.0044∗ | −0.29 ± 0.10∗ | 0.019 | 0.0033∗ | 0.0089∗ | 0.34 | 0.20 | 2.0 (1.2–3.4) | 0.0102 |
rs8053211 | 83,011,254 | ATP2C2 | A∗/G | 0.46 | + | 5 × 10−5∗ | −0.38 ± 0.09∗ | 0.040 | 3 × 10−5∗ | 0.0014∗ | 0.61 | 0.43 | 2.1 (1.3–3.3) | 0.0029∗ |
rs11860694 | 83,014,948 | ATP2C2 | C∗/G | 0.54 | − | 2 × 10−5∗ | −0.37 ± 0.09∗ | 0.039 | 9 × 10−6∗ | 0.0018∗ | 0.61 | 0.43 | 2.1 (1.3–3.3) | 0.0027∗ |
rs16973771 | 83,018,079 | ATP2C2 | G/A∗ | 0.48 | − | 0.0003∗ | −0.35 ± 0.09∗ | 0.034 | 0.0006∗ | 0.0025∗ | 0.34 | 0.51 | 2.0 (1.3–3.2) | 0.0036∗ |
rs2875891 | 83,021,410 | ATP2C2 | T/C∗ | 0.44 | + | 0.0057∗ | −0.34∗ ± 0.10∗ | 0.031 | 0.0063∗ | 0.0022∗ | 0.30 | 0.47 | 2.1 (1.3–3.4) | 0.0026∗ |
rs8045507 | 83,022,078 | ATP2C2 | T/C∗ | 0.48 | − | 0.0017∗ | −0.33 ± 0.09∗ | 0.029 | 0.0020∗ | 0.0022∗ | 0.34 | 0.51 | 2.1 (1.3–3.3) | 0.0028∗ |
Three significant SNPs fell within the CMIP gene, and five fell within ATP2C2. The remaining four significant SNPs were either intergenic or isolated signals of association. SNP alleles are given with the minor allele in the SLIC sample first. Putative risk alleles are marked with an asterisk. P Quant gives the p value for the quantitative, family-based analysis. p case-cont gives the p value for the case-control analysis. p values <0.01 are marked with an asterisk. The odds ratios indicate the ratio of case/control odds for each additional copy of the putative risk allele. Odds ratios were calculated within PLINK. The effect size is the estimated effect of each risk allele on the nonword repetition score (in SD ± SE). Effect sizes were calculated with MERLIN. Heritability gives the proportion of total variance explained by the SNP. Heritability estimates were calculated with MERLIN. The p Emp column gives empirical p values for the given SNP; these values were derived from permutations within QTDT or PLINK.