Table 1.
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).