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. 2021 May 3;44(2):e20200425.
doi: 10.1590/1678-4685-GMB-2020-0425. eCollection 2021.

Association of TYK2 polymorphisms with autoimmune diseases: A comprehensive and updated systematic review with meta-analysis

Felipe Mateus Pellenz  1   2 , Cristine Dieter  1   2 , Natália Emerim Lemos  1   2 , Andrea Carla Bauer  1   2   3 , Bianca Marmontel de Souza  1   2 , Daisy Crispim  1   2
Affiliations

Association of TYK2 polymorphisms with autoimmune diseases: A comprehensive and updated systematic review with meta-analysis

Felipe Mateus Pellenz et al. Genet Mol Biol. .

Abstract

Autoimmune diseases are characterized by the loss of self-tolerance, leading to immune-mediated tissue destruction and chronic inflammation. Tyrosine kinase 2 (TYK2) protein plays a key role in immunity and apoptosis pathways. Studies have reported associations between single nucleotide polymorphisms (SNPs) in the TYK2 gene and autoimmune diseases; however, results are still inconclusive. Thus, we conducted a systematic review followed by meta-analysis. A literature search was performed to find studies that investigated associations between TYK2 SNPs and autoimmune diseases (multiple sclerosis, systemic lupus erythematosus, Crohn's disease, ulcerative colitis, psoriasis, rheumatoid arthritis, type 1 diabetes, and inflammatory bowel disease). Pooled odds ratios (OR) with 95 % CI were calculated using random (REM) or fixed (FEM) effects models in the Stata 11.0 Software. Thirty-four articles were eligible for inclusion in the meta-analyses, comprising 9 different SNPs: rs280496, rs280500, rs280523, rs280519, rs2304256, rs12720270, rs12720356, rs34536443, and rs35018800. Meta-analysis results showed the minor alleles of rs2304256, rs12720270, rs12720356, rs34536443, and rs35018800 SNPs were associated with protection against autoimmune diseases. Moreover, the A allele of the rs280519 SNP was associated with risk for systemic lupus erythematosus. Our meta-analyses demonstrated that the rs2304256, rs12720270, rs12720356, rs34536443, rs35018800, and rs280519 SNPs in the TYK2 gene are associated with different autoimmune diseases.

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Conflict of interest statement

Conflict of Interest: The authors declare that they have no conflict of interest.

Figures

Figure 1
Figure 1. Flowchart illustrating the search strategy used to identify studies of TYK2 SNPs and autoimmune diseases.
Figure 2 -
Figure 2 -. Forest plot showing individual and pooled OR (95 % CI) for the association between the TYK2 rs2304256 SNP and autoimmune diseases, under an allele contrast model.
Figure 3 -
Figure 3 -. Forest plot showing individual and pooled OR (95 % CI) for the associations between the TYK2 rs12720356 SNP and autoimmune diseases, under an allele contrast model.
Figure 4 -
Figure 4 -. Forest plot showing individual and pooled OR (95 % CI) for the associations between the TYK2 rs34536443 SNP and autoimmune diseases, under an allele contrast model.
Figure 5 -
Figure 5 -. Forest plots showing individual and pooled OR (95 % CI) for the associations between the TYK2 rs12720270 (A) and rs35018800 SNPs (B) and autoimmune diseases, under an allele contrast model.
See this image and copyright information in PMC

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