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Using the Utah Population Database to assess familial risk of primary open angle glaucoma

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机构: [1]Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing 100730, China [2]Department of Ophthalmology and Shiley Eye Center, and Institute for Genomic Medicine, University of California, San Diego, La Jolla, CA 92037, USA [3]Moran Eye Center, University of Utah, Salt Lake City, UT, USA
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关键词: Primary open angle glaucoma Genetic epidemiology Genetics

摘要:
Purpose: Primary open angle glaucoma (POAG) is a leading cause of irreversible blindness in the elderly. Previous epidemiological studies have identified family history, ethnic origin, age, high intraocular pressure and diabetes mellitus as risk factors. However, it is difficult to assess the extent family history plays in this disease process. The Utah Population Database (UPDB), created by the University of Utah, has recently become a resource for which greater than 9 million records are available for use. The UPDB is divided into two major data sets from which family members can be identified, namely 1.6 million genealogy records and 2 million Utah birth certificates. This study utilizes these resources to assess the familial risk of POAG within the Utah Population. Methods: The University of Utah's hospital and clinic records were searched for patients with primary and chronic open angle glaucoma (ICD9 codes 365.04 and 365.11) between the years 1995 and 2005. A case-control analysis was then performed with specialized UPDB software that was modified to constrain the control and pedigree populations to over 1 million University of Utah-UPDB linked records. Controls were matched to cases by gender and birth year (+/- 2.5 years) with only one control being used per case. Population-attributable risk (PAR) to familial factors and relative risk (RR) were computed using conditional logistic regression (CLR). Results: From the original 1.5 million medical records, 6198 patients with glaucoma were identified. Of these, 3391 met the inclusion criteria, which required patients to have at least one parent or one child in the UPDB. The PAR in this population was found to be 0.20, indicating 20% of the risk for glaucoma is attributable to genetic factors. CLR computations also showed a significantly increased relative risk (p<0.05) in first cousins (RR = 1.45 (95% confidence interval (CI) 1.16-1.8)), second cousins (RR = 1.19 (95% CI 1.08-1.32)), siblings (RR = 3.76 (95% CI 2.66-5.31)), parents (RR = 6.25 (95% CI 3.94-9.9)) and children (RR = 6.77 (95% CI 3.39-13.5)). Conclusions: Based on these familial data, there is a significantly higher prevalence of glaucoma in both first and second generation relatives of those affected as compared to relatives in the control group. When compared with other epidemiologic studies, such as an analysis of first-degree relatives of patients from the Rotterdam study, which showed a PAR of 16%, our study actually demonstrates a greater familial contribution to glaucoma. The UPDB is a valuable and unique resource providing a large population from which to analyze the familial risk of glaucoma. Published by Elsevier Ltd.

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出版当年[2009]版:
大类 | 3 区 医学
小类 | 3 区 眼科学
最新[2025]版:
大类 | 4 区 心理学
小类 | 4 区 神经科学 4 区 眼科学 4 区 心理学
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出版当年[2008]版:
Q2 OPHTHALMOLOGY Q3 NEUROSCIENCES
最新[2023]版:
Q3 OPHTHALMOLOGY Q3 PSYCHOLOGY Q4 NEUROSCIENCES

影响因子: 最新[2023版] 最新五年平均 出版当年[2008版] 出版当年五年平均 出版前一年[2007版] 出版后一年[2009版]

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第一作者机构: [1]Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing 100730, China [2]Department of Ophthalmology and Shiley Eye Center, and Institute for Genomic Medicine, University of California, San Diego, La Jolla, CA 92037, USA
通讯作者:
通讯机构: [2]Department of Ophthalmology and Shiley Eye Center, and Institute for Genomic Medicine, University of California, San Diego, La Jolla, CA 92037, USA [3]Moran Eye Center, University of Utah, Salt Lake City, UT, USA
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