Allele frequency of CX36 SNPs in JME cases and controls
| SNP* | Alleles, n (%) | p Value† | Function | Protein residue | Amino acid position | dbSNP ID | |
|---|---|---|---|---|---|---|---|
| ND, Not determined. dbSNP, public database reference (http://www.ncbi.nlm.nih.gov/SNP). | |||||||
| *SNP offset were calculated taking the A of the CX36 start codon as position 1, and using the GenBank accession no. NM_020660; †p Values computed using Fisher’s exact test, give the significance value of the comparison of SNPs allele frequencies between JME and control cases. Statistically significant associations are underlined; ‡OR = 1.89; 95% CI 1.03 to 3.45 (odds ratios and their associated 95% CI were calculated for results with p<0.05); §OR = 1.5; 95% CI 1.04 to 2.17. | |||||||
| SNP-129 | A | T | – | – | – | rs2277558 | |
| 15q14 JME | ND | ND | – | ||||
| RS JME | ND | ND | – | ||||
| Combined | ND | ND | – | ||||
| Control | 150 (70.7) | 62 (29.3) | |||||
| SNP333 | T | A | Synonymous | Thr | 111 | rs651724 | |
| 15q14 JME | 44 (75.9) | 14 (24.1) | 0.29 | ||||
| RS JME | 160 (70.2) | 68 (29.8) | 0.58 | ||||
| Combined | 204 (71.3) | 82 (28.7) | 0.33 | ||||
| Control | 292 (67.9) | 138 (32.1) | |||||
| SNP369 | C | T | Synonymous | Ser | 123 | – | |
| 15q14 JME | 56 (96.50) | 2 (3.5) | 0.37 | ||||
| RS JME | 170 (89.5) | 20 (10.5) | 0.3 | ||||
| Combined | 226 (91.1) | 22 (8.9) | 0.61 | ||||
| Control | 211 (92.5) | 17 (7.5) | |||||
| SNP588 | C | T | Synonymous | Ser | 196 | rs3743123 | |
| 15q14 JME | 34 (58.6) | 24 (41.4) | 0.033‡ | ||||
| RS JME | 181 (65.1) | 97 (34.9) | 0.057 | ||||
| Combined | 215 (64) | 121 (36) | 0.026§ | ||||
| Control | 179 (72.8) | 67 (27.2) | |||||
| SNP888 | G | A | Synonymous | Glu | 296 | – | |
| 15q14 JME | 49 (84.5) | 9 (15.5) | 0.5 | ||||
| RS JME | 229 (88.8) | 29 (11.2) | 0.88 | ||||
| Combined | 278 (88) | 38 (12) | 1 | ||||
| Control | 205 (88.4) | 27 (11.6) | |||||