Table 3.
Genotypes of CASQ1 SNPs: rs74123279, rs3747673, and rs2275703, in patients with autoimmune thyroid disease with and without ophthalmopathy and controls
| rs74123279
|
rs3747673
|
rs2275703
|
|||||||
|---|---|---|---|---|---|---|---|---|---|
| Wild-type | Heterozygote | Homozygote | Wild-type | Heterozygote | Homozygote | Wild-type | Heterozygote | Homozygote | |
| Number of patients | 406 | 405 | 407 | ||||||
| GO group | 40 (54%) | 33 (45%) | 1 (1%) | 29 (38%) | 40 (53%) | 7 (9%) | 13 (18%) | 41 (56%) | 19 (26%) |
| GH group | 83 (64%) | 38 (29%) | 9 (7%) | 44 (33%) | 65 (49%) | 22 (18%) | 43 (33%) | 60 (46%) | 27 (21%) |
| HT group | 55 (57%) | 38 (40%) | 3 (3%) | 35 (38%) | 42 (46%) | 15 (16%) | 32 (32%) | 49 (50%) | 18 (18%) |
| Control group | 73 (69%) | 30 (28%) | 3 (3%) | 40 (38%) | 46 (43%) | 20 (19%) | 39 (37%) | 48 (46%) | 18 (17%) |
| Total (all groups) | 251 (62%) | 139 (34%) | 16 (4%) | 148 (37%) | 193 (48%) | 64 (15%) | 127 (30%) | 198 (49%) | 82 (21%) |
| Major allele frequency | 641 (79%) | NA | NA | 489 (60%) | NA | NA | 452 (56%) | NA | NA |
| Minor allele frequency | 171 (21%) | NA | NA | 321 (40%) | NA | NA | 362 (44%) | NA | NA |
| Total number of alleles | 812 (100%) | NA | NA | 810 (100%) | NA | NA | 814 (100%) | NA | NA |
| Chi-square | 11.83 | NA | NA | 4.26 | NA | NA | 8.72 | NA | NA |
| P-value | 0.06 | NA | NA | 0.64 | NA | NA | 0.18 | NA | NA |
Note: Number of patients expressed as percentage of each population.
Abbreviations: CASQ1, calsequestrin; SNP, single-nucleotide polymorphism; GO, Graves’ ophthalmopathy; GH, Graves’ hyperthyroidism; HT, Hashimoto’s thyroiditis; NA, not applicable.