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. 2009 Aug 14;85(2):264–272. doi: 10.1016/j.ajhg.2009.07.004

Table 1.

Significant Association in the SLIC Association Screen

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.