Table 5. Association of DNA repair genes in independent data sets.
Logistic regression comparing HZs1 | Additive Model | |||||
Phenotype | OR | 95% CI | p-value | OR | 95% CI | P |
eMERGE | ||||||
FANCA/rs172334972 | ||||||
ALL | 1.7 | (0.7–4.0) | 0.30 | 1.2 | (0.9–1.4) | 0.15 |
CA | 1.5 | (0.6–3.7) | 0.42 | 1.1 | (0.9–1.4) | 0.32 |
HEM | 2.0 | (0.1–15.2) | 0.84 | 1.2 | (0.7–2.3) | 0.51 |
MET | 1.1 | (0.02–7.1) | 1.00 | 0.8 | (0.5–1.5) | 0.58 |
**SKN | 4.1 | (0.9–13.3) | 0.06 | 1.7 | (1.2–2.5) | 0.006 |
FANCI/POLG/rs3087374 | ||||||
ALL | 1.4 | (0.92–2.0) | 0.13 | 1.0 | (0.9–1.1) | 0.82 |
CA | 1.4 | (0.9–2.1) | 0.10 | 1.0 | (0.9–1.1) | 0.88 |
HEM | 1.4 | (0.6–3.5) | 0.41 | 1.0 | (0.8–1.2) | 0.84 |
**MET | 2.4 | (1.3–4.4) | 0.01 | 1.2 | (1.0–1.4) | 0.06 |
SKN | 1.2 | (0.4–3.8) | 0.79 | 1.1 | (0.9–1.4) | 0.42 |
VESPA | ||||||
BRCA1/rs1799950 | ||||||
ALL | 8.1 | (1.1–360.6) | 0.04 | 1.0 | (0.8–1.2) | 0.96 |
CA | 4.5 | (0.9–44.4) | 0.08 | 0.9 | (0.8–1.1) | 0.45 |
**HEM | 0.7 | (0.1–5.5) | 1.00 | 1.1 | (0.8–1.5) | 0.42 |
MET | 1.2 | (0.1–6.5) | 1.00 | 1.0 | (0.8–1.3) | 0.85 |
SKN | 1.3 | (0.2–6.1) | 0.94 | 1.3 | (0.9–2.0) | 0.16 |
CHD1L/rs2275249 | ||||||
ALL | 2.3 | (0.9–6.4) | 0.09 | 0.9 | (0.8–1.2) | 0.62 |
CA | 2.0 | (0.8–5.0) | 0.17 | 0.9 | (0.7–1.2) | 0.49 |
HEM | 0.8 | (0.2–2.9) | 1.00 | 0.7 | (0.5–1.0) | 0.05 |
**MET | 4.1 | (1.4–10.8) | 0.01 | 1.2 | (0.9–1.6) | 0.20 |
SKN | 1.7 | (0.6–4.5) | 0.37 | 1.5 | (1.0–2.2) | 0.06 |
FANCA/rs17233497 | ||||||
ALL | 1.3 | (0.6–2.9) | 0.59 | 1.0 | (0.8–1.1) | 0.74 |
CA | 1.3 | (0.6–2.8) | 0.67 | 1.0 | (0.8–1.2) | 0.94 |
HEM | 1.7 | (0.5–4.3) | 0.40 | 1.0 | (0.8–1.3) | 0.85 |
MET | 0.5 | (0.1–1.7) | 0.36 | 0.9 | (0.7–1.1) | 0.43 |
**SKN | 1.4 | (0.2–5.8) | 0.92 | 0.8 | (0.6–1.2) | 0.35 |
FANCI/POLG/rs3087374 | ||||||
ALL | 0.9 | (0.4–2.1) | 0.90 | 0.9 | (0.8–1.0) | 0.15 |
CA | 0.6 | (0.2–1.5) | 0.35 | 0.9 | (0.8–1.1) | 0.35 |
HEM | 3.5 | (1.3–8.7) | 0.01 | 0.9 | (0.7–1.2) | 0.42 |
**MET | 0.8 | (0.2–2.4) | 0.89 | 1.0 | (0.8–1.3) | 0.83 |
SKN | n/a | n/a | n/a | 0.8 | (0.5–1.2) | 0.21 |
SLX4/rs3810813 | ||||||
ALL | 2.6 | (0.5–16.1) | 0.27 | 1.0 | (0.8–1.2) | 0.88 |
**CA | 1.3 | (0.3–5.9) | 0.90 | 0.9 | (0.8–1.1) | 0.44 |
HEM | 0.9 | (0.02–7.5) | 1.00 | 1.0 | (0.7–1.3) | 0.99 |
MET | 1.5 | (0.2–8.2) | 0.86 | 0.9 | (0.7–1.2) | 0.59 |
SKN | n/a | n/a | n/a | 0.6 | (0.3–1.0) | 0.07 |
(1) This model compared minor allele homozygotes to matched common allele homozygotes.
= 3,092 subjects). (2) Genotype data for this nsSNP was only available for one eMERGE site (n