Lack of Association of TYK2 Gene Polymorphisms in Chinese Patients with Systemic Lupus Erythematosus

Genetic association and interaction between the IRF5 and TYK2 genes and systemic lupus erythematosus in the Han Chinese population

“…This variant is situated close to an intron-exon boundary, suggesting a splicing variation in molecular pathogenesis. As in the Han Chinese population, the rs12720270 did not show significant association with SLE and it lies outside the susceptibility region, suggesting it may not have a major effect, which was consistent with previous association studies conducted in Asian population [36]. While we could not draw out the effect of rs12170270 in the pathology of SLE for the controversial result in European population [19].…”

“…The rs2304256 causes a Val/Phe substitution at position 362 in the JH4 region, which is located in a part of the large JH4 domain of TYK2 that is critical for the interaction between TYK2 and INF-a receptor [2]. Lines of studies reported the significant association between rs2304256 and SLE in Finnish, Swedish and the UK populations [2,15,19,35], but not in Chinese Hong Kong [36] and Japanese population [37]. However, our finding suggested that TYK2 rs2304256 was associated with the development of SLE in Han Chinese.…”

Therapeutic potential of tyrosine kinase 2 in autoimmunity

“…No association observed [72] SLE Swedish 480 256 rs2304256(A/C)/rs12720356(G/T) rs2304256C allele and rs12720356G associated with SLE risk [73] SLE Chinese…”

“…Reports from a number of investigators have shown the association of polymorphisms in genes of Tyk2 with susceptibility to human autoimmune diseases [54, [69][70][71][72][73][74][75][76][77][78][79][80][81][82][83], but the controversial results exist. Details of these studies are summarized in Table 2.…”

IRF-5 - A New Link to Autoimmune Diseases

“…Studies in Asian populations have identified new susceptibility genes for lupus, while some of the previously known ones have been discounted (Kawasaki et al, 2008;Li et al, 2011;Shimane et al, 2009;Shin et al, 2008;Siu et al, 2008), reviewed in (Kim et al, 2009). Given that the majority of lupus patients are women, genetic imprinting remains yet an unexplored topic.…”