SNAPC4 – Ankylosing Spondylitis

SNAPC4 has emerged as a potential susceptibility locus for ankylosing spondylitis (AS). Three independent association studies comprising over 3200 AS patients (PMID:20463747, PMID:26590821, PMID:24334645) have reported statistically significant but modest associations (odds ratios approximately 1.2–1.34) between common variants in SNAPC4 and AS. However, the lack of familial segregation data and the modest effect sizes preclude a higher ClinGen classification, resulting in a Limited overall gene‑disease association.

The genetic evidence includes the identification of variants such as SNP rs3812571 and rs11145835. For illustration, a representative variant is reported as c.111A>T (p.Lys37Asn). Functional studies further support the association by showing decreased SNAPC4 mRNA expression in leukocytes from AS patients (PMID:24334645), suggesting a potential pathogenic role. In summary, while both genetic and functional data provide valuable insight into SNAPC4’s involvement in AS pathogenesis, the current evidence remains preliminary yet clinically informative for decision‑making and further investigation.

References

• Genes and immunity • 2010 • Elucidating the chromosome 9 association with AS; CARD9 is a candidate gene. PMID:20463747
• Rheumatology International • 2016 • Determination of IL1 R2, ANTXR2, CARD9, and SNAPC4 single nucleotide polymorphisms in Iranian patients with ankylosing spondylitis. PMID:26590821
• The Journal of rheumatology • 2014 • Evidence for genetic association of CARD9 and SNAPC4 with ankylosing spondylitis in a Chinese Han population. PMID:24334645

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