CTG18.1 Expansion in TCF4 Among African Americans With Fuchs' Corneal Dystrophy.
CTG18.1 Expansion in TCF4 Among African Americans With Fuchs' Corneal Dystrophy.
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DOI：
10.1167/iovs.17-21661
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发表时间：
2017-12-01
影响因子：
4.4
通讯作者：
Gottsch JD
中科院分区：
文献类型：
--
作者：
Eghrari AO;Vahedi S;Afshari NA;Riazuddin SA;Gottsch JD
对Fuchs营养不良的研究主要集中在欧洲血统的个体上。需要对非裔美国人的疾病进行定性，以确保预后因素和治疗方法适用于不同的患者群体。我们评估了所有在三级护理机构中自我报告的年龄超过40岁的黑人和白人患者，他们被诊断为白内障，为期3年，同时诊断Fuchs营养不良。纵向队列中受影响的患者被邀请提供血液样本，我们从中提取基因组DNA。CTG18.1三核苷酸重复长度用两步三重重复启动的聚合酶链式反应方法测定。扩展被定义为>；40个CTG重复。包括种族在内的人口统计信息被记录在案。在59,365名自述的接受白内障评估的黑人和白人成年人中，黑人与白人患者出现富氏营养不良的优势比为0.6992(95%可信区间[CI]，0.6210-0.7872)。60例黑人和549例白人Fuchs角膜营养不良患者进入纵向研究，其中21例(35.0%)黑人和343例(62.5%)白人患者出现三核苷酸重复扩增，差异有统计学意义(P=7.7×10−5)。在多变量线性回归模型中，重复扩张而不是种族与严重程度的平均临床分级显著相关。患有Fuchs营养不良的黑人患者比白人患者不太可能表现出CTG18.1等位基因扩张。这些数据有助于我们理解临床表现中的人群差异，并强调在临床研究中考虑患者群体多样性的必要性。
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. 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. 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 (62.5%) white patients demonstrated trinucleotide repeat expansion, a significant difference (P = 7.7 × 10−5). In a multivariable linear regression model, repeat expansion but not race was significantly associated with mean clinical grading of severity. 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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DOI：
10.1126/science.1172257
发表时间：
2009-05-22
期刊：
Science (New York, N.Y.)
影响因子：
--
作者：
Tishkoff SA;Reed FA;Friedlaender FR;Ehret C;Ranciaro A;Froment A;Hirbo JB;Awomoyi AA;Bodo JM;Doumbo O;Ibrahim M;Juma AT;Kotze MJ;Lema G;Moore JH;Mortensen H;Nyambo TB;Omar SA;Powell K;Pretorius GS;Smith MW;Thera MA;Wambebe C;Weber JL;Williams SM
通讯作者：
Williams SM
影响因子：
0.7
作者：
Eghrari AO;Gottsch JD
通讯作者：
Gottsch JD
影响因子：
3.7
作者：
Wieben ED;Aleff RA;Tosakulwong N;Butz ML;Highsmith WE;Edwards AO;Baratz KH
通讯作者：
Baratz KH
影响因子：
4.4
作者：
Xing, Chao;Gong, Xin;Mootha, V. Vinod
通讯作者：
Mootha, V. Vinod
影响因子：
2.8
作者：
Eghrari AO;Vasanth S;Wang J;Vahedi F;Riazuddin SA;Gottsch JD
通讯作者：
Gottsch JD