Consanguinity and risk of Bipolar Disorder I in Egypt

描述（由申请人提供） 正在进行的双相情感障碍（BD 1）的易感基因图谱研究表明，几个（未知的）遗传和环境因素之间存在复杂的相互作用。大多数此类研究都是在高加索人中进行的。对其他种族群体的补充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。 我们的初步研究表明，在埃及的BD1患者的父母的血亲率升高了两倍，与几组控制。为了严格调查这些结果，我们提出了一个系统设计的前瞻性研究，仔细的诊断程序和准确的估计血缘关系。我们将研究一个代表性样本的BD1（n = 100）埃及患者的父母之间的近亲结婚率。他们将与没有精神病的匹配患者的父母进行比较。将使用家族史数据以及高度信息化的全基因组DNA多态性来评价血缘关系水平。如果BD1的风险随着埃及近亲繁殖的水平而变化，那么至少有一些易感基因座可能会发生遗传反应。然后，标记信息还可以实现纯合性定位研究。

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.