Department of Otorhinolaryngology, National Center for Geriatrics and Gerontology, Obu, Japan.
Laryngoscope. 2010 Apr;120(4):791-5. doi: 10.1002/lary.20809.
OBJECTIVES/HYPOTHESIS: To investigate the recently reported association of the C677T polymorphism in the methylenetetrahydrofolate reductase (MTHFR) gene with sudden sensorineural hearing loss (SSNHL), we analyzed data from a community-based Japanese population.
Nested case-control study.
Among 2,174 adults (1,096 males and 1,078 females) aged 40 to 79 years old who participated in the National Institute for Longevity Sciences-Longitudinal Study of Aging, we compared 33 cases of prevalent SSNHL, defined as a self-reported otolaryngologist diagnosis, with the other cases. Multiple logistic regression was used to obtain odds ratios (ORs) for SSNHL in subjects with the MTHFR C677T polymorphism, with adjustment for other possibly influential factors under additive, dominant, and recessive genetic models.
The per-allele ORs for SSNHL risk were 1.687 (95% confidence interval [CI], 1.023-2.780) in model 1, with adjustment for age and sex, and 1.654 (CI, 1.003-2.728) in model 2, with adjustment for smoking status, body mass index, histories of heart disease, hypertension, and diabetes, in addition to the factors in model 1. In model 3, a significant association between SSNHL and the C677T polymorphism was observed under all genetic models independent of factors including folic acid and homocysteine, although there were only 25 cases and 1,677 controls due to the addition of moderating factors.
Our results suggest that the T allele of MTHFR C677T could be associated with susceptibility to SSNHL, and even imply that this mutation could be a risk factor that is independent of blood folic acid and homocysteine.
目的/假设:为了研究亚甲基四氢叶酸还原酶(MTHFR)基因 C677T 多态性与突发性聋(SSNHL)之间的关联,我们分析了一项基于社区的日本人群数据。
巢式病例对照研究。
在参加国家衰老研究所纵向老龄化研究的 2174 名 40 至 79 岁成年人中,我们比较了 33 例现患 SSNHL 病例与其他病例。采用多因素 logistic 回归分析 MTHFR C677T 多态性与 SSNHL 之间的比值比(OR),在加性、显性和隐性遗传模型下,对其他可能有影响的因素进行调整。
在模型 1 中,SSNHL 风险的每个等位基因 OR 为 1.687(95%置信区间 [CI],1.023-2.780),调整了年龄和性别因素;在模型 2 中,调整了吸烟状况、体重指数、心脏病、高血压和糖尿病病史后,OR 为 1.654(CI,1.003-2.728),在模型 1 中增加了这些因素。在模型 3 中,在不包括叶酸和同型半胱氨酸等因素的情况下,所有遗传模型均显示 SSNHL 与 C677T 多态性之间存在显著关联,尽管由于加入了调节因素,仅有 25 例病例和 1677 例对照。
我们的结果表明,MTHFR C677T 的 T 等位基因可能与 SSNHL 的易感性相关,甚至表明该突变可能是独立于血液叶酸和同型半胱氨酸的危险因素。