CTLA4
Cytotoxic T-lymphocyte–associated protein 4
Gene Number: 1493
Location: 2q33.2
Key Functions: Immune checkpoint regulation, T-cell activation control, immune tolerance, autoimmunity prevention
CTLA4 encodes cytotoxic T-lymphocyte-associated protein 4, a key immune checkpoint receptor that downregulates immune responses by inhibiting T-cell activation. It functions to maintain immune tolerance and prevent tissue damage by limiting excessive immune reactions.
Variants in CTLA4 are associated with dysregulated immune signaling and an increased risk of autoimmune diseases such as type 1 diabetes, rheumatoid arthritis, and autoimmune thyroid disease.
SNP ID | Your Genotype | Alternative Alleles | Interpretation |
|---|---|---|---|
rs231775 | No matching variant or no valid DNA data | G | No interpretation available |
rs3087243 | No matching variant or no valid DNA data | A | No interpretation available |
rs231775
AA – Normal risk; baseline for autoimmune thyroid disease (R).
AG – ~1.5× higher risk of autoimmune thyroiditis compared to AA (R).
GG – ~2.3× higher risk of Hashimoto's thyroiditis and ~1.47× higher risk of Graves’ disease compared to AA (R).
Functional effect: The G allele (Thr→Ala) reduces CTLA-4 glycosylation and cell-surface expression, weakening T-cell inhibition and increasing autoimmune susceptibility.
rs3087243
AA – Normal risk for autoimmune diseases (R).
AG – ~1.5× higher risk for autoimmune diseases (R).
GG – ~1.5× higher risk for autoimmune diseases (R).
Functional effect: The G allele in the 3′-UTR CT60 variant may alter CTLA-4 expression or mRNA stability, modestly raising autoimmune risk in contexts like thyroid disease and rheumatoid arthritis.
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