Table 4.
Minor and major alleles distribution of CASQ1 SNPs: rs74123279, rs3838216, rs3747673, and rs2275703, in patients with autoimmune thyroid disease with and without ophthalmopathy and controls
| rs74123279
|
rs3838216
|
rs3747673
|
rs2275703
|
|||||
|---|---|---|---|---|---|---|---|---|
| Minor alleles | Major alleles | Minor alleles | Major alleles | Minor alleles | Major alleles | Minor alleles | Major alleles | |
| Alleles population | 812 | 810 | 810 | 814 | ||||
| GO group | 35 (4%) | 113 (14%) | 25 (3%) | 123 (15%) | 54 (7%) | 98 (12%) | 79 (10%) | 67 (8%) |
| GH group | 56 (7%) | 204 (25%) | 64 (8%) | 198 (24%) | 109 (13%) | 153 (19%) | 114 (14%) | 146 (18%) |
| HT group | 44 (6%) | 148 (18%) | 35 (4%) | 149 (19%) | 72 (9%) | 112 (14%) | 85 (10%) | 113 (14%) |
| Control group | 36 (4%) | 176 (22%) | 66 (8%) | 150 (19%) | 86 (11%) | 126 (15%) | 84 (10%) | 126 (16%) |
| Total alleles frequency | 171 (21%) | 641 (79%) | 190 (23%) | 620 (77%) | 321 (40%) | 489 (60%) | 362 (44%) | 452 (56%) |
| Chi-square | 3.15 | NA | 1.77 | NA | 1.59 | NA | 7.42 | NA |
| P | 0.36 | NA | 0.008 | NA | 0.66 | NA | 0.05 | NA |
Note: Number of patients’ alleles 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.