Consanguinity and risk of Bipolar Disorder I in Egypt

埃及的血缘关系和双相情感障碍 I 的风险

• 批准号: 6879300
• 负责人: Vishwajit Laxmikant Nimgaonkar
• 金额: $ 4.02万
• 依托单位: UNIVERSITY OF PITTSBURGH AT PITTSBURGH
• 依托单位国家: 美国
• 财政年份: 2004
• 资助国家: 美国
• 起止时间: 2004-12-15 至 2007-11-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6879300
• 关键词: Egypt; behavioral /social science research tag; bipolar depression; case history; clinical research; family genetics; genetic markers; genetic polymorphism; genetic susceptibility; human genetic material tag; human subject; inbreeding; international cooperation; interview; parents; psychopathology

DESCRIPTION (provided by applicant) Ongoing efforts to map susceptibility genes for Bipolar I Disorder (BD 1) have suggested complex interactions between several (unknown) genetic and environmental factors. Most such studies have been conducted among Caucasians. Complementary investigations of other ethnic groups may yield useful insights, especially if unusual patterns of inheritance are observed. Our preliminary studies have suggested that rates of parental consanguinity among BD1 patients in Egypt are elevated twofold in comparison with several sets of controls. To investigate these results rigorously, we propose a systematically designed prospective study, with careful diagnostic procedures and accurate estimation of consanguinity. We will examine rates of consanguinity among parents of a representative sample of Egyptian patients with BD1 (n = 100). They will be compared with parents of matched patients without psychotic disorders. Levels of consanguinity will be evaluated using family history data as well as highly informative genome wide DNA polymorphisms. If the risk for BD1 varies with levels of inbreeding in Egypt, then at least some of the susceptibility loci are likely to act recessively. Then, the marker information may also enable homozygosity mapping studies.

描述（由申请人提供） 正在进行的绘制双相情感障碍易感基因（BD 1）的努力表明，几种（未知）遗传因素和环境因素之间的复杂相互作用。大多数此类研究都是在高加索人中进行的。对其他种族的互补研究可能会产生有用的见解，尤其是在观察到异常的继承模式时。 我们的初步研究表明，与几组对照组相比，埃及BD1患者的父母血缘关系率升高。为了严格研究这些结果，我们提出了一项系统设计的前瞻性研究，并仔细的诊断程序并准确地估计血缘关系。我们将检查埃及患者BD1患者的代表性样本的父母之间的血缘关系（n = 100）。他们将与没有精神病患者的匹配患者的父母进行比较。血父的水平将使用家族史数据以及信息丰富的基因组广泛的DNA多态性进行评估。如果BD1的风险随埃及的近交水平而变化，那么至少某些易感基因座可能会掩盖起作用。然后，标记信息还可以实现纯合性映射研究。