BARBADOS FAMILY STUDY OF OPEN-ANGLE GLAUCOMA (BFSG)

巴巴多斯开角型青光眼家庭研究 (BFSG)

• 批准号: 2165221
• 负责人: MCRISTINA LESKE
• 金额: $ 17.73万
• 依托单位: STATE UNIVERSITY NEW YORK STONY BROOK
• 依托单位国家: 美国
• 财政年份: 1994
• 资助国家: 美国
• 起止时间: 1994-09-30 至 1998-09-29
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/2165221
• 关键词: African Caribbean; adult human (21+); child (0-11); disease /disorder proneness /risk; epidemiology; eye fundus photography; family genetics; genetic markers; glaucoma; glaucoma test; human subject; interview; linkage mapping; parents; perimetry; siblings; spouses; vision

DESCRIPTION: (Applicant's Abstract) Open-angle glaucoma (OAG) is a major cause of blindness and visual impairment, especially in black populations. Although reported family history is known to be associated with the disease, few studies have actually examined the family members to determine the presence or absence of OAG. The Barbados Family Study of Open-Angle Glaucoma (BFSG) is the first study designed to provide accurate data on the familial aggregation of OAG in a large black population. Its ultimate goals are to determine the pattern of OAG transmission within families and then identify its potential genetic component. This study is related to the Barbados Eye Study (BES), a prevalence study, 1987-1992, and the Barbados Incidence Study of Eye Diseases (BISED), 1992-1997. Among the 4,709 BES participants (84 percent of those eligible), a high OAG prevalence of 7 percent was found. Male gender and family history of OAG were associated with OAG. To achieve BFSG aims, the surviving parents, siblings, spouses and children (age 40+ years) of 100 BES and BISED participants with OAG, who meet our criteria, will be examined to determine their OAG status and obtain risk factor information. The examination of the estimated 680 relatives will include applanation tonometry, best corrected visual acuity, automated perimetry, stereo fundus photography, an interview, ocular and other measurements, as well as collection of a blood sample for genetic analyses. In the first phase of data analyses, SAGE (Statistical Analysis for Genetic Epidemiology) and other statistical methods will be used to determine the genetic mode of transmission of OAG. The identification of affected families, sample collection and epidemiological analysis will allow the second phase of the analyses, which will consist of linkage analyses of OAG using highly polymorphic microsatellite markers. The BFSG results should not only increase our understanding of the inheritance of OAG, but may have direct clinical applicability by allowing prediction of family members who are at increased risk for developing this disease.

描述：（申请人的摘要）开角型青光眼（OAG）是一种主要的 失明和视力障碍的原因，特别是在黑色 人口。 虽然已知有家族史与 对于这种疾病，很少有研究真正检查过家庭成员 以确定是否存在OAG。 巴巴多斯开角型青光眼家族研究（BFSG）是第一个 一项旨在提供关于家庭聚集性的准确数据的研究， OAG在一个大的黑人人口。 其最终目标是确定 OAG在家庭内的传播模式，然后确定其 潜在的遗传成分。 这项研究与巴巴多斯眼有关 1987-1992年流行率研究和巴巴多斯发病率 眼科疾病研究（BISED），1992-1997年。 在4,709个BES中， 参与者（84%的合格者），OAG的高患病率 男性和家族性OAG史 与OAG有关。 为了实现BFSG的目标，幸存的父母，兄弟姐妹，配偶和 100名BES和BISED参与者的儿童（40岁以上）患有OAG， 符合我们的标准，将进行检查，以确定他们的OAG状态， 获取风险因素信息。 对估计的680名 亲属将包括压平眼压计，最佳矫正视力 敏锐度，自动视野检查，立体眼底照相，访谈， 眼睛和其他测量，以及血液样本的收集 基因分析。在数据分析的第一阶段，SAGE （遗传流行病学统计分析）和其他统计 方法将被用来确定遗传方式的传播， OAG。受影响家庭的确定、样本收集和 流行病学分析将允许进行第二阶段的分析， 这将包括使用高度多态性的OAG的连锁分析， 微卫星标记 BFSG的结果不仅应该增加我们对 OAG的遗传，但可能具有直接的临床应用性， 可以预测家庭成员谁是在增加风险， 发展这种疾病。