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This summary integrates the available genetic and experimental evidence linking ANO6 (HGNC:25240) to ankylosing spondylitis (MONDO_0005306). Two independent case–control studies in Han Chinese populations have identified common variants in ANO6 that are significantly associated with ankylosing spondylitis. In the discovery phase, a genome‑wide association study analyzed 1,837 affected individuals and 4,231 controls and identified a susceptibility locus within ANO6 (rs17095830; p = 1.63 × 10^-8 (PMID:22138694)). A subsequent study involving 497 patients and 498 controls further supported this association by demonstrating correlations between ANO6 polymorphisms (e.g., rs4768085) and both disease susceptibility and severity (PMID:39358671).
Although the genetic findings derive from common variant association analyses rather than Mendelian segregation, the replicated and statistically robust associations across independent cohorts provide moderate evidence for the gene–disease relationship. The observed odds ratios and p‑values substantiate the relevance of ANO6 variants in susceptibility to ankylosing spondylitis, thereby supporting their utility in diagnostic decision‑making and potential commercial applications in risk stratification.
Genetic evidence is bolstered by the identification of specific SNP markers, yet no definitive HGVS‑coded rare variants have been reported in these studies. Consequently, while the association is supported by case–control data, the variant spectrum for ANO6 in the context of ankylosing spondylitis remains limited. Moreover, segregation data is not applicable given the complex, multifactorial inheritance pattern typical of common diseases.
Functional studies of ANO6, although not directly performed in ankylosing spondylitis cohorts, elucidate key properties of the protein such as its calcium‑dependent ion channel and phospholipid scramblase activities. One study demonstrated that ANO6 channel activity is enhanced at physiological temperature, suggesting a potential biological role that may influence inflammatory or remodeling processes relevant to ankylosing spondylitis (PMID:31040335). However, the direct mechanistic link between these functional attributes and the pathogenesis of ankylosing spondylitis remains to be fully established.
In summary, the genetic evidence from large, replicated association studies together with supportive though indirect functional data yield a coherent narrative that ANO6 contributes to ankylosing spondylitis risk. Additional data may further refine the mechanistic understanding, but current evidence supports a moderate level of association that has both diagnostic and prognostic implications.
Key Take‑home sentence: ANO6 represents a moderately supported susceptibility locus for ankylosing spondylitis, offering potential utility in clinical risk evaluation and targeted research efforts.
Gene–Disease AssociationModerateTwo independent case–control studies comprising 1,837 patients (PMID:22138694) and 497 patients (PMID:39358671) have demonstrated statistically significant associations between common ANO6 variants and ankylosing spondylitis. Genetic EvidenceModerateAssociation studies identified SNP markers (e.g., rs17095830, rs4768085) in ANO6 that replicate across independent cohorts, supporting moderate genetic evidence. Functional EvidenceLimitedAlthough functional assays have characterized ANO6 channel and scramblase activities, their direct link to ankylosing spondylitis pathogenesis has not been established. |