Congdon Nathan, Broman Karl W, Lai Hong, Munoz Beatriz, Bowie Heidi, Gilber Donna, Wojciechowski Robert, Alston Christine, West Sheila K
Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
Invest Ophthalmol Vis Sci. 2004 Jul;45(7):2182-6. doi: 10.1167/iovs.03-1163.
To quantify the association between siblings in age-related nuclear cataract, after adjusting for known environmental and personal risk factors.
All participants (probands) in the Salisbury Eye Evaluation (SEE) project and their locally resident siblings underwent digital slit lamp photography and were administered a questionnaire to assess risk factors for cataract including: age, gender, lifetime sun exposure, smoking and diabetes history, and use of alcohol and medications such as estrogens and steroids. In addition, blood pressure, body mass index, and serum antioxidants were measured in all participants. Lens photographs were graded by trained observers masked to the subjects' identity, using the Wilmer Cataract Grading System. The odds ratio for siblings for affectedness with nuclear cataract and the sibling correlation of nuclear cataract grade, after adjusting for covariates, were estimated with generalized estimating equations.
Among 307 probands (mean age, 77.6 +/- 4.5 years) and 434 full siblings (mean age, 72.4 +/- 7.4 years), the average sibship size was 2.7 per family. After adjustment for covariates, the probability of development of nuclear cataract was significantly increased (odds ratio [OR] = 2.07, 95% confidence interval [CI], 1.30-3.30) among individuals with a sibling with nuclear cataract (nuclear grade > or = 3.0). The final fitted model indicated a magnitude of heritability for nuclear cataract of 35.6% (95% CI: 21.0%-50.3%) after adjustment for the covariates.
Findings in this study are consistent with a genetic effect for age-related nuclear cataract, a common and clinically significant form of lens opacity.
在对已知的环境和个人风险因素进行校正后,量化年龄相关性核性白内障患者兄弟姐妹之间的关联。
索尔兹伯里眼科评估(SEE)项目的所有参与者(先证者)及其当地居住的兄弟姐妹均接受了数字裂隙灯照相,并填写了一份问卷以评估白内障的风险因素,包括:年龄、性别、终生日晒情况、吸烟史和糖尿病史,以及酒精和雌激素、类固醇等药物的使用情况。此外,还测量了所有参与者的血压、体重指数和血清抗氧化剂水平。由对受试者身份不知情的训练有素的观察者使用威尔默白内障分级系统对晶状体照片进行分级。通过广义估计方程估计校正协变量后兄弟姐妹患核性白内障的优势比以及核性白内障分级的兄弟姐妹相关性。
在307名先证者(平均年龄77.6±4.5岁)和434名同胞兄弟姐妹(平均年龄72.4±7.4岁)中,每个家庭的平均同胞数量为2.7人。校正协变量后,有核性白内障兄弟姐妹(核分级≥3.0)的个体发生核性白内障的概率显著增加(优势比[OR]=2.07,95%置信区间[CI],1.30 - 3.30)。最终拟合模型显示校正协变量后核性白内障的遗传度为35.6%(95%CI:21.0% - 50.3%)。
本研究结果与年龄相关性核性白内障(一种常见且具有临床意义的晶状体混浊形式)的遗传效应一致。