Table 3.
Main characteristics and PDE11A sequence changes in the AIMAH (n = 29) and controls (n = 96).
| AIMAH (n = 29) | Control group (n = 96) | OR* (95% CI) | P | |
|---|---|---|---|---|
| Sex (F/M) | 24/5 | 75/21 | — | — |
| Age, y (mean ± SD) | 48.7 ± 9.2 | 47.1 ± 0.7 | — | — |
| c.147A>C/p.L49L (exon 3) | ||||
| A/A | 28 (96) | 96 (100) | — | |
| A/C | 1 (4) | 0 (0) | ||
| C/C | 0 (0) | 0 (0) | ||
| c.354G>A/p.Q118Q(exon 3) | ||||
| G/G | 29 (100) | 96 (100) | — | |
| G/A | 0 (0) | 0 (0) | ||
| A/A | 0 (0) | 0 (0) | ||
| c.480G>A/p.L160L (exon3) | ||||
| G/G | 29 (100) | 96 (100) | — | |
| G/A | 0 (0) | 0 (0) | ||
| A/A | 0 (0) | 0 (0) | ||
| c.690C>T/p.C230C (exon 3) | ||||
| C/C | 28 (96) | 96 (100) | — | — |
| C/T | 1 (4) | 0 (0) | ||
| T/T | 0 (0) | 0 (0) | ||
| c.1072-3C>T (intron 4) | ||||
| C/C | 20 (69) | 79 (82) | (c) (d) 2.01 (0.67–5.9) | 0.23 |
| C/T | 9 (31) | 17 (18) | ||
| T/T | 0 (0) | 0 (0) | ||
| c.1263A>G/p.E421E (exon 6) | ||||
| A/A | 18 (62) | 78 (81) | (c) 1.94 (0.73–5.13) | 0.19 |
| A/G | 11 (34) | 17 (18) | (d) 2.25 (0.78–6.5) | 0.14 |
| G/G | 0 (0) | 1 (1) | ||
| c.1577-3C/T (intron 10) | ||||
| c.1626A>G/p.A542A(exon 11) | ||||
| c.1644+26insGTTTATA(intron 11) | ||||
| C/C | 14 (48) | 42 (44) | (c) 0.91 (0.47–1.7) | 0.89 |
| C/T | 11 (38) | 39 (40) | (d) 0.86 (0.33–2.22) | 0.91 |
| T/T | 4 (14) | 15 (16) | (r) 0.9 (0.2–3.36) | 1 |
| c.2758_2760insTCC/p.S920ins (exon 23) | ||||
| A/A | 3 (11) | 11 (11) | (c) 0.72 (0.34–1.50) | 0.44 |
| A/B | 16 (55) | 41 (43) | (d) 0.91 (0.2–5.67) | 1 |
| B/B | 10 (34) | 44 (46) | (r) 0.56 (0.18–1.58) | 0.34 |
| Presence of missense/nonsense mutations | Total n of mutations (%) | |||
| Yes | 7 (24) | 9 (9) | 3.53 | 0.05 |
| No | 22 (76) | 87 (91) | ||
Frequency of different synonymous variations (polymorphisms) and missense/nonsense mutations in 29 AIMAH and sex- and age- matched controls. Values are numbers (percentages) unless otherwise stated.
*
OR (95% CI) are given for recessive (r), codominant (c), and dominant (d) models, wherever possible.