Hara Satoshi, Kusunoki Takeshi, Nakagawa Hiroshi, Toyoda Yu, Nojiri Shuko, Kamiya Kazusaku, Furukawa Masayuki, Takata Yusuke, Okada Hiroko, Anzai Takashi, Matsumoto Fumihiko, Ikeda Katsuhisa
Department of Otorhinolaryngology, Graduate School of Medicine, Juntendo University, Tokyo, Japan.
Department of Otorhinolaryngology, Faculty of Medicine, Juntendo University, Tokyo, Japan.
Otolaryngol Head Neck Surg. 2022 Jan;166(1):139-145. doi: 10.1177/01945998211000374. Epub 2021 Mar 16.
A single-nucleotide polymorphism 538G>A in the human gene is a determinant of the earwax morphotype. 538GG and GA correspond to wet earwax and 538AA to dry earwax. Despite a putative positive correlation between the frequency of the 538G allele and the prevalence of cholesteatoma, minimal clinical information is currently available. We aimed to evaluate this association between the genotypes and acquired middle ear cholesteatoma.
Case-control study.
Single-center academic hospital.
We recruited 67 Japanese patients with acquired middle ear cholesteatoma (cholesteatoma group) and 100 Japanese controls with no history of middle ear cholesteatoma. We assessed the genotypes for all participants. Clinical information was collected from the cholesteatoma group. The genotype data of 104 Japanese people from the 1000 Genomes Project who represent the general population were used.
The proportion of participants with 538GG or GA was significantly higher in the cholesteatoma group than in the control group or general Japanese population ( < .001). The 538G allele frequency was also significantly higher in the cholesteatoma group than in the control group or general Japanese population ( < .001). Multivariate logistic regression analyses revealed a significant association between the genotype and acquired middle ear cholesteatoma (odds ratio, 5.49; 95% CI, 2.61-11.5; < .001).
Our results suggest that the genotypes could be associated with the development of acquired middle ear cholesteatoma among Japanese people.
人类基因中的单核苷酸多态性538G>A是耳垢形态类型的决定因素。538GG和GA对应湿性耳垢，538AA对应干性耳垢。尽管538G等位基因频率与胆脂瘤患病率之间可能存在正相关，但目前可用的临床信息极少。我们旨在评估这些基因型与后天性中耳胆脂瘤之间的关联。
病例对照研究。
单中心学术医院。
我们招募了67例患有后天性中耳胆脂瘤的日本患者（胆脂瘤组）和100例无中耳胆脂瘤病史的日本对照者。我们评估了所有参与者的基因型。从胆脂瘤组收集临床信息。使用了来自千人基因组计划的104名代表普通人群的日本人的基因型数据。
胆脂瘤组中538GG或GA参与者的比例显著高于对照组或日本普通人群（P<0.001）。胆脂瘤组中538G等位基因频率也显著高于对照组或日本普通人群（P<0.001）。多因素逻辑回归分析显示基因型与后天性中耳胆脂瘤之间存在显著关联（优势比，5.49；95%可信区间，2.61-11.5；P<0.001）。
我们的结果表明，这些基因型可能与日本人后天性中耳胆脂瘤的发生有关。
