ArticleEuropean archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery2026
Association of the rs17822931 (538G > A, G180R) in the ABCC11 gene with risk of middle ear cholesteatoma in older adults: a hospital-based case-control study at Heidelberg University Hospital, Germany.
Article in European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
backgroundCholesteatoma is a progressive disease characterized by abnormal proliferation of keratinizing squamous epithelium within the temporal bone. Although both congenital and acquired forms have been recognized, the molecular mechanisms underlying its development remain poorly understood. Although surgery is the only curative option, the high recurrence rates underscore the need to identify genetic risk factors. The rs17822931 (538G > A, G180R) polymorphism in the ABCC11 gene has been associated with cholesteatoma risk in the Japanese population. However, ethnic variation in the frequencies of SNPs other than rs17822931 raises the question of whether its involvement in cholesteatoma development is unique to the Japanese population or generalizable to other ethnic groups.
methodsTo address this, we conducted a case-control study involving 818 individuals (510 controls and 308 cholesteatoma patients) who presented to the Heidelberg University Hospital (Kopfklinik) in Germany. Among 472 individuals aged ≥ 46 years (302 controls and 170 cholesteatoma patients), 164 matched pairs were selected using 1:1 caliper matching (width = 0.1). Conditional logistic regression was then performed on the resulting 328 individuals (164 controls and 164 cholesteatoma patients).
resultsWe found that rs17822931 was significantly associated with cholesteatoma in the dominant (OR = 2.04; 95% CI: 1.23-3.41; p = 0.00594) and per-allele (OR = 1.80; 95% CI: 1.18-2.73; p = 0.00599) models.
conclusionsThese findings from a German cohort replicate the association between the rs17822931 (538G > A, G180R) polymorphism in the ABCC11 gene and cholesteatoma risk in a non-Japanese population, suggesting a broader role of rs17822931 across ethnicities.
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