Consanguinity and risk of Bipolar Disorder I in Egypt

描述(由申请人提供) 目前对双相I型障碍(BD 1)易感基因图谱的研究表明，几个(未知的)遗传和环境因素之间存在复杂的相互作用。大多数这样的研究都是在高加索人中进行的。对其他种族群体的互补性调查可能会产生有用的见解，特别是如果观察到不寻常的遗传模式的话。 我们的初步研究表明，与几组对照相比，埃及BD1患者的父母血缘关系比率提高了两倍。为了严格调查这些结果，我们提出了一项系统设计的前瞻性研究，包括仔细的诊断程序和对血缘关系的准确估计。我们将检查具有代表性的埃及BD1患者(n=100)的父母的血缘关系比率。他们将与没有精神障碍的匹配患者的父母进行比较。血缘关系水平将使用家族史数据以及高度信息量的全基因组DNA多态进行评估。如果埃及近亲交配的风险随着近亲交配水平的不同而不同，那么至少一些易感基因可能是隐性作用的。然后，标记信息还可以使纯合作图研究成为可能。

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.