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.

BACKGROUND

Cholesteatoma 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.

METHODS

To 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).

RESULTS

We 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.

CONCLUSIONS

These 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.