CTLA4
Cytotoxic T-lymphocyte–associated protein 4
Gene Number: 1493
Location: 2q33.2
Key Functions: T-cell regulation, immune checkpoint signaling, immune tolerance
CTLA4 produces CTLA-4, a receptor that helps apply the brakes to activated T cells. It limits immune responses and helps prevent the immune system from attacking the body’s own tissues [R].
This report examines rs231775 (+49A>G) and rs3087243 (CT60), two common variants studied in relation to autoimmune susceptibility, particularly Graves’ disease and Hashimoto’s thyroiditis. Graves’ disease usually causes an overactive thyroid, while Hashimoto’s can gradually reduce thyroid function [R].
Explore your genotypes below. For other aspects of immune regulation, visit our guides to STAT4 and autoimmune susceptibility and IL10 and inflammation regulation.
SNP ID | Your Genotype | Alt Allele | Interpretation |
|---|---|---|---|
rs231775 | Analyze your DNA to see your genotype | G | Analyze your DNA to see a personalized result. |
rs3087243 | Analyze your DNA to see your genotype | G | Analyze your DNA to see a personalized result. |
rs231775 — T-Cell Regulation and Autoimmune Thyroid Disease
AA – Thr/Thr. No copies of the G allele associated with increased autoimmune thyroid disease susceptibility.
AG – Thr/Ala. One G allele. Associated with increased susceptibility to Graves’ disease and Hashimoto’s thyroiditis compared with AA [R].
GG – Ala/Ala. Two G alleles. A 2015 meta-analysis reported approximately 2.41× the odds of Graves’ disease and 2.10× the odds of Hashimoto’s thyroiditis compared with AA [R].
Functional effect: rs231775 changes threonine to alanine at position 17 of CTLA-4’s signal peptide, which helps guide the newly made protein through cellular processing. Laboratory experiments found less efficient processing and a lower proportion of the Ala17 form reaching the cell surface, providing a possible explanation for weaker immune restraint [R].
rs3087243 — CT60 and Autoimmune Thyroid Susceptibility
AA – Associated with lower autoimmune thyroid disease susceptibility than G-containing genotypes. (R).
AG – One G allele. Associated with increased susceptibility to autoimmune thyroid disease compared with AA (R).
GG – Two G alleles. A 2015 meta-analysis reported approximately 1.98× the odds of Graves’ disease compared with AA (R).
Research also links CT60 to Hashimoto’s thyroiditis, although the findings vary by ancestry. A 2018 meta-analysis found a significant association in Asian populations but not in its European-ancestry subgroup [R].
Functional effect: CT60 lies in a noncoding region downstream of CTLA4. It marks variation studied for effects on gene regulation and soluble CTLA-4 production. Its precise functional mechanism remains unresolved [R].
Reading These Results Together
These markers can be inherited together, so their odds ratios should not be multiplied to calculate a combined risk. They describe overlapping genetic influences on immune regulation [R]. The figures compare disease odds between research groups; they do not measure your current thyroid function or immune activity.
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