Table 3.
Gene burden analysis 1.
| Gene | # variants | Odds ratio ExACa | P value | P correctedb | Odds ratio ExAC NFEa | P value | P correctedb | Odds ratio CSVSa | P value | P correctedb |
|---|---|---|---|---|---|---|---|---|---|---|
| MYH14 | 50 | 13.54 (5.85–31.37) | 1.20E-09 | 6.01E-08 | 56.94 (25.13–128.98) | < 1.00E-15 | < 1.00E-15 | 38.52 (16.95–87.56) | < 1.00E-15 | < 1.00E-15 |
| MYO7A | 43 | 3.11 (1.73–5.57) | 1.41E-04 | 6.08E-03 | 4.64 (2.65–8.13) | 7.72E-08 | 3.32E-06 | 3.85 (2.18–6.81) | 3.60E-06 | 1.55E-04 |
| WFS1 | 36 | 1,24 (0 6–2.57) | 5.67E-01 | 1 | 1,84 (0.94–3.62) | 7.70E-02 | 1 | 3.28 (1.76–6.1) | 1.83E-04 | 6.57E-03 |
| ADD1 | 29 | 249.89 (96.17–649.29) | < 1.00E-15 | < 1.00E-15 | 318.03 (122.45–826) | < 1.00E-15 | < 1.00E-15 | 747.23 (287.95–1939.08) | < 1.00E-15 | < 1.00E-15 |
| WHRN | 28 | 24.63 (7.96–76.17) | 2.68E-08 | 7.51E-07 | 39.97 (13.03–122.58) | 1.12E-10 | 3.13E-09 | 62.91 (20.62–191.98) | 3.44E-13 | 9.64E-12 |
| TPRN | 26 | 36.63 (10.61–126.49) | 1.24E-08 | 3.22E-07 | 46.93 (13.64–161.49) | 1.03E-09 | 2.68E-08 | 81.9 (23.93–280.26) | 2.24E-12 | 5.81E-11 |
| USH1G | 24 | 4.04 (1.91–8.51) | 2.46E-04 | 5.90E-03 | 18.38 (9.26–36.48) | < 1.00E-15 | < 1.00E-15 | 8.12 (4–16.49) | 6.57E-09 | 1.58E-07 |
| USH1C | 22 | 5.12 (2.58–10.17) | 3.13E-06 | 6.88E-05 | 10.68 (5.54–20.59) | 1.54E-12 | 3.38E-11 | 5.12 (2.58–10.18) | 3.06E-06 | 6.73E-05 |
| P2RX2 | 22 | 20.34 (9.75–42.44) | < 1.00E-15 | < 1.00E-15 | 23.74 (11.41–49.41) | < 1.00E-15 | < 1.00E-15 | 23.51 (11.29–48.94) | < 1.00E-15 | < 1.00E-15 |
| ESPN | 19 | 27.88 (17.06–45.55) | < 1.00E-15 | < 1.00E-15 | 24.35 (14.88–39.84) | < 1.00E-15 | < 1.00E-15 | 17.39 (10.59–28.56) | < 1.00E-15 | < 1.00E-15 |
| RDX | 17 | 94.37 (36.06–247) | < 1.00E-15 | < 1.00E-15 | 57.38 (21.85–150.66) | < 1.00E-15 | < 1.00E-15 | 75.26 (28.72–197.23) | < 1.00E-15 | < 1.00E-15 |
| TJP2 | 17 | 2.78 (1.59–4.88) | 3.58E-04 | 6.09E-03 | 7.99 (4.79–13.32) | < 1.00E-15 | < 1.00E-15 | 2.92 (1.67–5.11) | 1.67E-04 | 2.85E-03 |
| SLC26A4 | 15 | 1.79 (1.02–3.15) | 4.31E-02 | 6.46E-01 | 4.14 (2.5–6.86) | 3.37E-08 | 5.06E-07 | 3.65 (2.19–6.09) | 6.62E-07 | 9.93E-06 |
| ESRRB | 14 | 12.54 (7.26–21.63) | < 1.00E-15 | < 1.00E-15 | 10.67 (6.16–18.48) | < 1.00E-15 | < 1.00E-15 | 7.54 (4.31–13.18) | 1.41E-12 | 1.98E-11 |
| DTNA | 13 | 6.07 (4.68–7.87) | < 1.00E-15 | < 1.00E-15 | 4.87 (3.74–6.35) | < 1.00E-15 | < 1.00E-15 | 4.78 (3.67–6.23) | < 1.00E-15 | < 1.00E-15 |
| PRKCB | 13 | 27.62 (18.65–40.91) | < 1.00E-15 | < 1.00E-15 | 17.6 (11.84–26.16) | < 1.00E-15 | < 1.00E-15 | 40.79 (27.61–60.28) | < 1.00E-15 | < 1.00E-15 |
| SLC12A2 | 12 | 21.91 (15.95–30.1) | < 1.00E-15 | < 1.00E-15 | 55.14 (40.31–75.43) | < 1.00E-15 | < 1.00E-15 | 79.32 (58.04–108.41) | < 1.00E-15 | < 1.00E-15 |
| KCNQ1 | 11 | 7.93 (5.92–10.63) | < 1.00E-15 | < 1.00E-15 | 13.75 (10.33–18.29) | < 1.00E-15 | < 1.00E-15 | 6.96 (5.18–9.34) | < 1.00E-15 | < 1.00E-15 |
| NFKB1 | 10 | 1.87 (1.3–2.71) | 7.81E-04 | 7.81E-03 | 1.92 (1.33–2.77) | 4.69E-04 | 4.69E-03 | 3.79 (2.72–5.29) | 4.44E-15 | 4.44E-14 |
| DPT | 10 | 1.88 (1.2–2.92) | 5.36E-03 | 5.36E-02 | 8.03 (5.5–11.74) | < 1.00E-15 | < 1.00E-15 | 4.38 (2.94–6.51) | 3.01E-13 | 3.01E-12 |
| GJB2 | 9 | 0.59 (0.31–1.12) | 1.06E-01 | 9.51E-01 | 2.81 (1.77–4.44) | 1.04E-05 | 9.32E-05 | 2.5 (1.57–3.98) | 1.21E-04 | 1.09E-03 |
| CEACAM16 | 9 | 1.25 (1.04–1.49) | 1.56E-02 | 1.40E-01 | 1.33 (1.12–1.59) | 1.48E-03 | 1.33E-02 | 2.45 (2.09–2.87) | < 1.00E-15 | < 1.00E-15 |
| FAM136A | 8 | 31.18 (27.22–35.71) | < 1.00E-15 | < 1.00E-15 | 38.36 (33.5–43.92) | < 1.00E-15 | < 1.00E-15 | 14.71 (12.81–16.89) | < 1.00E-15 | < 1.00E-15 |
| GRHL2 | 8 | 11.72 (9.35–14.7) | < 1.00E-15 | < 1.00E-15 | 9.28 (7.39–11.66) | < 1.00E-15 | < 1.00E-15 | 6.45 (5.11–8.15) | < 1.00E-15 | < 1.00E-15 |
| EYA4 | 7 | 36.65 (28.83–46.59) | < 1.00E-15 | < 1.00E-15 | 25.31 (19.88–32.22) | < 1.00E-15 | < 1.00E-15 | 7.68 (5.97–9.88) | < 1.00E-15 | < 1.00E-15 |
| COCH | 7 | 3.41 (2.54–4.58) | < 1.00E-15 | < 1.00E-15 | 3.39 (2.52–4.56) | < 1.00E-15 | < 1.00E-15 | 3.95 (2.95–5.28) | < 1.00E-15 | < 1.00E-15 |
| CCDC50 | 5 | 1.25 (0.99–1.59) | 6.22E-02 | 3.11E-01 | 1.62 (1.3–2.03) | 2.51E-05 | 1.25E-04 | 3.22 (2.63–3.94) | < 1.00E-15 | < 1.00E-15 |
| KCNJ10 | 5 | 4.38 (3.9–4.93) | < 1.00E-15 | < 1.00E-15 | 3.14 (2.78–3.55) | < 1.00E-15 | < 1.00E-15 | 2.3 (2.02–2.61) | < 1.00E-15 | < 1.00E-15 |
| SEMA3D | 4 | 1.56 (1.03–2.38) | 3.60E-02 | 1.44E-01 | 1.13 (0.72–1.77) | 5.84E-01 | 1 | 3.79 (2.63–5.47) | 1.09E-12 | 4.35E-12 |
| CLDN14 | 4 | 4.51 (2.56–7.94) | 1.74E-07 | 6.97E-07 | 22.86 (13.56–38.55) | < 1.00E-15 | < 1.00E-15 | 4.72 (2.69–8.29) | 6.61E-08 | 2.65E-07 |
| POU4F3 | 4 | 7.31 (6.53–8.18) | < 1.00E-15 | < 1.00E-15 | 4.92 (4.38–5.52) | < 1.00E-15 | < 1.00E-15 | 9.2 (8.23–10.28) | < 1.00E-15 | < 1.00E-15 |
| MSRB3 | 4 | 13.35 (11.34–15.71) | < 1.00E-15 | < 1.00E-15 | 10.85 (9.21–12.79) | < 1.00E-15 | < 1.00E-15 | 4.06 (3.4–4.83) | < 1.00E-15 | < 1.00E-15 |
a
Odds ratios were calculated in the 95% confidence interval.
b
P-values were corrected with Bonferroni method.
List of 29 genes showing a significant excess of missense exonic variants in patients with sporadic MD, according to the MAF observed in global ExAC population (N = 60,706), non-Finnish European ExAC population (NFE) (N = 33,370) and Spanish population from CSVS (N = 1579).