Table 1.
Case–control and transmission disequilibrium (TDT) association tests of RET, SEMA3 and NRG1 polymorphisms in HSCR
| Gene | SNP ID and risk/non-risk allele | Case–control |
TDT |
|||||
|---|---|---|---|---|---|---|---|---|
| Risk allele (case–control frequency) | Odds ratio (95% CI) | P | Risk allele transmitted/un-transmitted (T/U) | Odds ratio(95% CI) | P | Transmission rate (τ ± sd) | ||
| RET | rs2435357: T/C | 0.58/0.26 | 3.9 (3.2–4.7) | 4.3 × 10−44 | 219/50 | 4.4 (3.2–6.0) | 6.8 × 10−25 | 0.82 ±0.02 |
| RET | rs2506030: G/A | 0.56/0.41 | 1.8 (1.5–2.2) | 4.7 × 10−10 | 164/93 | 1.8 (1.4–2.3) | 9.5 × 10−6 | 0.63 ±0.03 |
| SEMA3 | rs11766001: C/A | 0.22/0.15 | 1.6 (1.3–2.0) | 1.0 × 10−4 | 96/55 | 1.7 (1.3–2.4) | 8.5 × 10−4 | 0.64 ±0.04 |
| SEMA3 | rs12707682: C/T | 0.30/0.24 | 1.3 (1.1–1.6) | 0.01 | 114/92 | 1.2 (0.9–1.6) | 0.13 | 0.57 ±0.03 |
| SEMA3 | rs1583147: T/C | 0.28/0.23 | 1.3 (1.1–1.6) | 0.01 | 115/86 | 1.3 (1.0–1.8) | 0.04 | 0.57 ±0.03 |
| NRG1 | rs16879552: C/T | 0.97/0.96 | 1.2 (0.7–2.1) | 0.43 | 13/15 | 0.9 (0.4–1.8) | 0.71 | 0.50 ±0.09 |
| NRG1 | rs7835688: C/G | 0.49/0.47 | 1.1 (0.9–1.3) | 0.44 | 134/124 | 1.1 (0.8–1.4) | 0.53 | 0.53 ±0.03 |
For case–control association, the risk allele frequency in cases and controls, odds ratio with 95% confidence interval (CI) and the significance value of association (P) are provided. For TDT, the counts of risk allele transmitted and un-transmitted from heterozygous parents, odds ratio with 95% CI, the significance value of association (P) and the estimated transmission rate (τ) with its standard deviation (SD) are provided. The transmission rate (τ) was estimated from all trios and duos using a maximum likelihood method (8).
The values in bold are statistically significant findings.