Table 1.
Association studies of thyroid-stimulating hormone receptor (TSHR) gene with Graves’ disease risk.
| Studies | Cases (n) | Population | Main polymorphisms found | Associated TSHR region |
|---|---|---|---|---|
| Cuddihy et al. (30) | 91 | Caucasian (USA) | rs2234919 (P52T) | Exon 1 |
| Akamizu et al. (31) | 186 | Japanese | TSHR-AT | Intron 2 |
| Chistiakov et al. (29) | 78 | Russian | rs1991517 (D727E) | Exon 10 |
| Ho et al. (24) | 164 | Chinese, Malays, Indians | rs2239610 | Intron 1 |
| Hiratani et al. (32) | 250 | Japanese | rs2268475, rs3783938 | Intron 7, intron 8 |
| Dechairo et al. (5) | 1,422 | Caucasian (UK) | rs2268458 | Intron 1 |
| Burton et al. (33) | 1,000 | Caucasian (UK) | rs3783941 | Intron 8 |
| Yin et al. (34) | 200 | Caucasian (women only) | rs2268458 | Intron 1 |
| Brand et al. (6) | 768 | Caucasian (UK) | rs179247, rs12101255 | Intron 1 |
| Ploski et al. (35) | 3,258 | Caucasian (Poland, UK) | rs179247, rs12101255 | Intron 1 |
| Chu et al. (36) | 5,530 | Chinese | rs12101261 | Intron 1 |
| Colobran et al. (37) | 137 | Caucasian (Spanish) | rs179247 | Intron 1 |
| Liu et al. (38) | 404 | Chinese | rs12101255, rs179247 | Intron 1 |
| Inoue et al. (39) | 112 | Japanese | rs179247 | Intron 1 |
| Tomer et al. (18) | 225 | Caucasian (USA) | rs2284720 | Intron 1 |
| Liu et al. (40) | 5,368 | Chinese | rs12101261, rs179243 | Intron 1 |
| Bufalo et al. (41) | 279 | Brazilian | rs179247, rs12885526 | Intron 1 |
| Fujii et al. (42) | 180 | Japanese | rs4411444 | Intron 1 |
| Lombardi et al. (43) | 333 | Caucasian (Italy) | rs179247, rs3783948, rs12101255 | Intron 1 |