Table 4.
Genotype and allele frequencies of MYP2 locus gene polymorphisms in 224 cases and 220 controls
| Gene/variation | Genotype | Cases N = 224 (%) | Controls N = 220 (%) | OR (95% CI) | P value |
|---|---|---|---|---|---|
| MYOM1 Gly333Gly (G>A; rs2230162) | GG | 168 (75.0) | 128 (58.0) | Ref. (1.00) | |
| GA | 28 (12.5) | 92 (42.0) | 0.2 (0.14-0.37) | <0.0001 | |
| AA | 28 (12.5) | 00 (00.0) | 22.14 (2.9-38.6) | <0.0001 | |
| (GA+AA) | 56 (25.0) | 92 (42.0) | 0.4 (0.3-0.7) | <0.0001 | |
| G | 364 (81.0) | 348 (79.0) | Ref. (1.00) | ||
| A | 84 (19.0) | 92 (21.0) | 0.9 (0.6-1.2) | 0.2 | |
| MYOM1 Gly341Ala (G>C; rs8099021) | GG | 00 (00.0) | 00 (00.0) | Ref. (1.00) | |
| GC | 32 (14.0) | 68 (31.0) | 0.46 (0.02-7.6) | 0.3 | |
| CC | 192 (86.0) | 152 (69.0) | 1.2 (0.07-20.3) | 0.4 | |
| (GC+CC) | 224 (100.0) | 220 (100.0) | 1.01 (0.06-16.3) | 0.5 | |
| G | 32 (7.0) | 68 (16.0) | Ref. (1.00) | ||
| C | 416 (93.0) | 372 (84.0) | 2.3 (1.5-3.7) | <0.0001 | |
| MYOM1 c.1022+23 (G>A; rs17177479) | GG | 196 (87.0) | 168 (76.0) | Ref. (1.00) | |
| GA | 00 (00.0) | 52 (24.0) | 6.7 (1.8-45.1) | <0.0001 | |
| AA | 28 (13.0) | 00 (00.0) | 24.8 (3.3-184.2) | <0.0001 | |
| (GA+AA) | 28 (13.0) | 52 (24.0) | 0.46 (0.27-0.76) | <0.0001 | |
| G | 392 (87.0) | 398 (88.0) | Ref. (1.00) | ||
| A | 56 (13.0) | 52 (12.0) | 1.09 (0.7-1.6) | 0.3 | |
| MYOM1 c.3418+44 (G>T; rs55779127) | GG | 30 (13.0) | 220 (100.0) | Ref. (1.00) | |
| GT | 194 (87.0) | 00 (00.0) | 1390 (188-10280) | <0.0001 | |
| TT | 00 (00.0) | 00 (00.0) | 7.1 (0.4-11.6) | 0.12 | |
| (GT+TT) | 194 (87.0) | 00 (00.0) | 1390 (188-10280) | <0.0001 | |
| G | 254 (57.0) | 440 (100.0) | Ref. (1.00) | ||
| T | 194 (43.0) | 00 (00.0) | 33.7 (4.6-42.4) | <0.0001 | |
| MYOM1 c.3418+65 (C>G; rs8096379) | CC | 30 (13.0) | 220 (100.0) | Ref. (1.00) | |
| CG | 194 (87.0) | 00 (00.0) | 1390 (188-10280) | <0.0001 | |
| GG | 00 (0.0) | 00 (00.0) | 7.1 (0.4-11.6) | 0.12 | |
| (CG+GG) | 194 (87.0) | 00 (00.0) | 1390 (188-10280) | <0.0001 | |
| C | 254 (57.0) | 440 (100.0) | Ref. (1.00) | ||
| G | 194 (43.0) | 00 (00.0) | 33.7 (4.6-42.4) | <0.0001 | |
| EMILIN2 Asn451Asn (T>C; rs3810067) | TT | 186 (83.0) | 160 (72.0) | Ref. (1.00) | |
| TC | 38 (17.0) | 60 (28.0) | 0.54 (0.34-0.86) | 0.004 | |
| CC | 00 (0.0) | 00 (00.0) | 0.86 (0.05-13.8) | 0.4 | |
| (TC+CC) | 38 (17.0) | 60 (28.0) | 0.54 (0.34-0.86) | 0.004 | |
| T | 410 (91.0) | 380 (86.0) | Ref. (1.00) | ||
| C | 38 (9.0) | 28 (14.0) | 1.25 (0.75-2.09) | 0.2 | |
| DLGAP1 Glu507Lys (G>A; Novel) | GG | 00 (00.0) | 00 (00.0) | Ref. (1.00) | |
| GA | 224 (100.0) | 220 (100.0) | 1.02 (0.06-16.4) | 0.5 | |
| AA | 00 (00.0) | 00 (00.0) | 1.0 (0.01-50.3) | 0.5 | |
| (GA+AA) | 224 (100.0) | 220 (100.0) | 1.02 (0.06-16.4) | 0.5 | |
| G | 224 (50.0) | 220 (50.0) | Ref. (1.00) | ||
| A | 224 (50.0) | 220 (50.0) | 1.0 (0.7-1.3) | 0.5 | |
| DLGAP1 Pro517Pro (G>A; rs3745051) | GG | 144 (64.0) | 220 (100.0) | Ref. (1.00) | |
| GA | 80 (36.0) | 00 (00.0) | 124.3 (17.1-903.1) | <0.0001 | |
| AA | 00 (00.0) | 00 (00.0) | 1.5 (0.09-24.5) | 0.4 | |
| (GA+AA) | 80 (36.0) | 00 (00.0) | 124.3 (17.1-903.1) | <0.0001 | |
| G | 368 (82.0) | 440 (100.0) | Ref. (1.00) | ||
| A | 80 (18.0) | 00 (00.0) | 96.8 (13.4-698.9) | <0.0001 |