Table 4.
Gene | Variant/Alleles | Risk Allele 1 | Risk Allele 2 | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Allele Freq. Difference | Heterozygous | Homozygous | Allele Positivity | Allele Freq. Difference | Heterozygous | Homozygous | Allele Positivity | |||
[1]↔[2] | [11]↔[12] | [11+]↔[22] | [11]↔[12+22] | [2]↔[1] | [22]↔[12] | [22]↔[11] | [11+12]↔[22] | |||
BRCA1 | rs8176318 (C/T) | 2.4 (0.8–7.0) | 1.1 (0.3–4.0) | 7.5 (0.4–149.4) | 1.7(0.5–5.7) | 0.4 (0.1–1.3) | 0.1 (0.01–3.5) | 0.1 (0.01–2.7) | 0.1 (0.01–2.7) | |
0.118 (P) | 0.918 | 0.078 | 0.372 | 0.118 (P) | 0.1185 | 0.078 | 0.079 | |||
rs12516 (C/T) | 2.2 (0.9–5.4) | 0.3 (0.05–1.3) | 15.4 (0.9–277.7) | 1.2 (0.4–3.3) | 0.5 (0.2–1.1) | 0.02 (0.001–0.5) | 0.1 (0.004–1.2) | 0.1 (0.003–1.0) | ||
0.082 (P) | 0.078 | 0.001 | 0.79 | 0.082 (P) | 0.001 | 0.0099 | 0.006 | |||
BRCA2 | rs15869 (A/C) | 1.5 (0.6–3.7) | 0.3 (0.08–1.3) | 10.7 (0.6–200.5) | 0.9 (0.3–2.5) | 0.7 (0.3–1.6) | 0.03 (0.001–0.8) | 0.1 (0.005–1.7) | 0.1 (0.004–1.51) | |
0.366 (P) | 0.097 | 0.032 | 0.79 | 0.366 (P) | 0.005 | 0.032 | 0.0218 | |||
c.*457 (A/C) | 1.9 (0.96–3.8) | 0.4 (0.1–1.2) | 11.3 (1.4–92.8) | 1.1 (0.5–2.5) | 0.5 (0.3–1.0) | 0.04 (0.004–0.4) | 0.1 (0.01–0.7) | 0.1 (0.01–0.6) | ||
0.063 (P) | 0.096 | 0.007 | 0.832 | 0.063 (P) | 0.0005 | 0.007 | 0.0021 |
Cell contents: odds ratio (95% confidence interval) and p-value. rs8176318: Allele [1] = T; allele [2] = C, rs12516: allele [1] = T; allele [2] =C, rs15869: allele [1] = C; allele [2] = C; c.*457: allele [1] = C; allele [2] = A. Significative values are indicate in bold.