Lee Jae Hwan, Cristol Stephen M, Kim Woon Cho, Chung Eui Sang, Tchah Hungwon, Kim Man Soo, Nam Chung Mo, Cho Hyun-Soo, Kim Eung Kweon
Corneal Dystrophy Research Institute, Department of Ophthalmology, Severance Hospital, Yonsei University College of Medicine, Seoul, Korea.
Ophthalmic Epidemiol. 2010 Jun;17(3):160-5. doi: 10.3109/09286581003624939.
This study investigates the prevalence of granular corneal dystrophy type 2 (GCD2; Avellino corneal dystrophy) in the Korean population.
GCD2 homozygotes were identified through a collaboration of Korean referral centers for corneal disease. The genetic status of the patients and their immediate families were verified by DNA analysis. A lower bound for the gene prevalence was calculated using a model based on the Hardy-Weinberg principle. A second population-based model was developed to correct for known underestimation in the primary model. The corrected model used population data from the 2005 Korean census and fertility rates from historical Korean census data.
We identified 21 individuals homozygous for GCD2 (R124H mutation) from 16 Korean families. From this, we estimate that the overall prevalence (combining heterozygotes and homozygotes) is at least 8.25 affected persons/10,000 persons. Our corrected estimate for overall prevalence is 11.5 affected persons/10,000 persons.
We present the first estimate of the prevalence of GCD2. Although uncommon, the prevalence of GCD2 in Korea is greater than anticipated. We believe that our approach could potentially be applied to estimating the prevalence of other rare diseases.
本研究调查韩国人群中2型颗粒状角膜营养不良（GCD2；阿韦利诺角膜营养不良）的患病率。
通过韩国角膜疾病转诊中心的合作确定GCD2纯合子。通过DNA分析验证患者及其直系亲属的基因状态。使用基于哈迪-温伯格原理的模型计算基因患病率的下限。开发了第二个基于人群的模型以校正原始模型中已知的低估情况。校正后的模型使用了2005年韩国人口普查的人口数据和韩国历史人口普查数据中的生育率。
我们从16个韩裔家庭中鉴定出21名GCD2（R124H突变）纯合子个体。据此，我们估计总体患病率（包括杂合子和纯合子）至少为每10,000人中有8.25名患者。我们校正后的总体患病率估计值为每10,000人中有11.5名患者。
我们首次给出了GCD2患病率的估计值。尽管不常见，但GCD2在韩国的患病率高于预期。我们认为我们的方法可能潜在地应用于估计其他罕见疾病的患病率。
