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. 2013 Mar 4;22(11):2312–2324. doi: 10.1093/hmg/ddt065

Table 1.

Genome-wide association analysis results of the CDC/AAP CP classification traits (severe CP versus healthy and moderate CP versus healthy) among the European American participants of the Dental ARIC study cohort (n = 4504), including single nucleotide polymorphisms (SNPs) with MAF-HapMap II CEU ≥ 5% and associated P < 5 × 10−6; the SNP with the lowest P-value per locus is presented; additional prioritized SNPs in each locus are presented in the footnote, along with corresponding r2 (based on 1000 genomes pilot 1 release) with the top SNPs

Locus SNP Position Build36 Strand Imputed Major allele MAFa (HapMap II-CEU) Closest gene(s) and position or distance Pb Risk allele frequency disease/healthy OR (95% CI)
Severe CP
 14q21c rs12883458 50349129 + Yes T [C] 0.10 NIN (Intronic) 3.5 × 10−7 [C] 0.13/0.09 1.89 (1.48, 2.41)
 7p15d rs2521634 24344565 + Yes G [A] 0.25 NPY (47Kb) 1.6 × 10−6 [G] 0.80/0.74 1.47 (1.25, 1.73)
 3p21e rs11925054 55365926 + No G [T] 0.14 WNT5A (109Kb); ERC2 (151Kb) 6.5 × 10−7 [G] 0.90/0.86 1.69 (1.37, 2.10)
Moderate CP
 6p21.1f rs7762544 41487293 + Yes A [G] 0.18 NCR2 (61Kb) 1.1 × 10−7 [G] 0.21/0.16 1.41 (1.24, 1.60)
 19p13.3g rs3826782 6838736 + Yes G [A] 0.07 EMR1 (Intronic); VAV1 (30Kb) 4.0 × 10−6 [A] 0.05/0.04 2.00 (1.48, 2.70)
 10p15 rs12260727 10378335 + Yes G [A] 0.15 CELF2 (709Kb) 6.0 × 10−7 [G] 0.89/0.85 1.54 (1.30, 1.82)

CI, confidence interval.

aMinor allele frequency.

bBased on logistic regression, log-additive models, including terms for age, sex, study center and ancestry (10 first PCs).

cAdditional SNPs in locus with P < 5 × 10−6: rs1004832 (r2 = 1.00), rs8009874 (r2 = 0.84) and rs12893300 (r2 = 0.49).

dAdditional SNP in locus with P < 5 × 10−6: rs11771124 (r2 = 1.00).

eAdditional SNP in locus with P < 5 × 10−6: rs503022 (r2 = 0.52).

fAdditional SNPs in locus with P < 5 × 10−6: rs9357360 (r2 = 0.89), rs1853406 (r2 = 0.89) and rs1535582 (r2 = 0.33).

gAdditional SNP in locus with P < 5 × 10−6: rs12610529 (r2 = 0.79).