期刊
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
卷 58, 期 14, 页码 6046-6049出版社
ASSOC RESEARCH VISION OPHTHALMOLOGY INC
DOI: 10.1167/iovs.17-21661
关键词
Fuchs' corneal dystrophy; African-Americans; trinucleotide repeat expansion
资金
- National Institutes of Health [K12 EY015025-10, R01 EY016835, L30 EY024746]
PURPOSE. Studies of Fuchs' dystrophy have largely focused on individuals of European origin. Characterization of disease among African Americans is required to ensure prognostic factors and therapeutic approaches are applicable across diverse patient populations. METHODS. We assessed all self-reported black and white patients aged older than 40 years at a tertiary care institution with a diagnosis of cataract over a 3-year period for concurrent diagnosis of Fuchs' dystrophy. Affected patients in a longitudinal cohort were invited to provide a blood sample from which we extracted genomic DNA. The CTG18.1 trinucleotide repeat length was determined using a two-step, triplet repeat primed PCR protocol. Expansion was defined as > 40 CTG repeats. Demographic information, including race, was documented. RESULTS. Of 59,365 self-reported black and white adults who presented for cataract evaluation, the odds ratio of presenting with Fuchs' dystrophy among black compared to white patients was 0.6992 (95% confidence interval [CI], 0.6210-0.7872). A total of 60 black and 549 white patients with Fuchs' corneal dystrophy enrolled in the longitudinal study, of which 21 (35.0%) black and 343 (62.59o) white patients demonstrated trinucleotide repeat expansion, a significant difference (P = 7.7 X 10-5). In a multivariable linear regression model, repeat expansion but not race was significantly associated with mean clinical grading of severity. CONCLUSIONS. Black patients with Fuchs' dystrophy were less likely than white patients to demonstrate CTG18.1 allele expansion. The data contribute to our understanding of population differences in clinical presentation, and highlight the need for considering diversity of patient populations in clinical research.
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