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. 2024 Dec 23:12:e18735.
doi: 10.7717/peerj.18735. eCollection 2024.

Association of tyrosine kinase 2 polymorphisms with susceptibility to microscopic polyangiitis in a Guangxi population

Binglan Yang #  1 , Liepeng Chu #  1 , Fei Feng  1 , Shurong Lu  1 , Chao Xue  1
Affiliations

Association of tyrosine kinase 2 polymorphisms with susceptibility to microscopic polyangiitis in a Guangxi population

Binglan Yang et al. PeerJ. .

Abstract

Background: Heredity and epigenetics affect the pathogenesis of microscopic polyangiitis (MPA). Tyrosine kinase 2 (TYK2) polymorphisms (rs2304256C > A, rs280519A > G, and rs12720270G > A) may be potential protective factors against anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV). Current research suggests that TYK2 is associated with various autoimmune diseases; however, no study has examined the relationship between TYK2 polymorphisms and AAV. This study assessed the effect of TYK2 polymorphisms on susceptibility to MPA.

Methods: Overall, 562 Chinese participants (265 patients with MPA and 297 healthy volunteers) were recruited. Polymerase chain reactions combined with high-throughput sequencing were used to analyze polymorphic loci, while logistic regression analysis was used to assess the relationship between polymorphism of the TYK2 gene and MPA susceptibility.

Results: In males, individuals with the CA genotype (rs2304256) in the overdominant model showed a significantly reduced risk of MPA (odds ratio (OR) = 0.52; 95% confidence interval (CI) [0.29-0.93]; p = 0.025). Regarding rs280519, male carriers of the AG genotype had a significantly lower risk of developing MPA in both the codominant (OR = 0.51; 95% CI [0.28-0.93]; p = 0.039) and overdominant (OR = 0.48; 95% CI [0.27-0.86]; p = 0.013) models. The GA genotype of rs12720270 was associated with low susceptibility to MPA in males (OR = 0.52; 95% CI [0.29-0.93]; p = 0.027).

Conclusions: This study indicates that mutations in the TYK2 gene (rs2304256, rs280519, and rs12720270) may be associated with a reduced risk of MPA in the male Chinese population in Guangxi. The A allele of single nucleotide polymorphism (SNP) rs2304256 may be a protective factor against MPA, while the G alleles of SNPs rs280519 and rs12720270 are protective factors against MPA.

Keywords: Microscopic polyangiitis; Polymorphism; Susceptibility; TYK2.

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Conflict of interest statement

The authors declare that they have no competing interests.

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