Table 2.
Germline CTLA4 and PDCD1 gene polymorphisms are associated with autoimmune diseases.
| Autoimmune disease | Gene polymorphism | Ethnic Group | References |
|---|---|---|---|
| Autoimmune thyroid disease including Grave’s disease and Hashimoto’s thyroiditis | CTLA4 | United Kingdom Chinese Japanese Brazilian Indian |
(117, 133) (134–137) (138) (139) (140) |
| Type 1 Diabetes Mellitus |
CTLA4
PDCD1 |
Dutch European United Kingdom Chinese Tunisian Italian Danish European Chinese |
(141) (117) (142) (143) (144) (124) (145) |
| Autoimmune adrenal insufficiency | CTLA4 | European | (146) |
| Vitiligo, in combination with other autoimmune disease | CTLA4 | United Kingdom | (147) |
| Pemphigus vulgaris and foliaceus | CTLA4 | Spanish European Serbian European Brazilian |
(148) (148, 149) (150) |
| Coeliac disease | CTLA4 | Dutch European European French Caucasian |
(141) (151) (152) |
| Rheumatoid arthritis |
CTLA4
PDCD1 |
United Kingdom North America European/Mexican Chinese |
(133) (153) (154) (155, 156) |
| Myasthenia Gravis | CTLA4 | Chinese Swedish European |
(157–162) (163) (149) |
| Systemic lupus erythematosus |
CTLA4
PDCD1 |
Korean Cretan/Greek European |
(143) (164) |
| Sjogren’s syndrome | CTLA4 | Australian Caucasian | (165) |