Consanguinity Associated With Increased Risk for Bipolar I Disorder in Egypt
Consanguinity Associated With Increased Risk for Bipolar I Disorder in Egypt
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DOI：
10.1002/ajmg.b.30913
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发表时间：
2009-09-05
影响因子：
2.8
通讯作者：
Nimgaonkar, Vishwajit L.
中科院分区：
文献类型：
--
作者：
Mansour, Hader;Klei, Lambertus;Nimgaonkar, Vishwajit L.
我们的目的是对比双相I型障碍（BPI）患者和习惯性近亲婚姻人群（即，婚姻关系人）。血缘关系增加了许多单基因和多基因疾病的风险。BPI的风险是否随着血缘关系的增加而增加还没有系统的研究。在埃及进行了两项独立的研究：（1）病例对照研究，93例BPI患者，90名筛选的成人对照个体，以及可用的父母。近亲繁殖系数/近亲比率通过两种方式进行估计：使用64种DNA多态性（“基于DNA”比率）;和来自家族史数据（“自我报告”）;（2）流行病学调查：总共筛选了1，584个个体，从这些个体中获得了确定的BPI病例（n = 35）和150个随机选择的未受影响的对照个体的自我报告的近亲数据。基于DNA的近亲结婚率显示出显著的病例对照差异（P=0.0039）。在两个样本中，BPI患者自我报告的血缘关系发生率也升高（研究1 OR = 2.66，95%置信区间，CI：1.34，5.29;研究2：OR = 4.64，95% CI：2.01，10.34）。总之，两个独立的，系统的研究表明，在尼罗河三角洲地区的埃及BPI患者之间的血缘关系增加。自我报告的血缘关系的估计得到了基于DNA的估计的支持，并且两者都显示出BPI的显著病例对照差异。(C)2009 Wiley-Liss，Inc.
We aimed to contrast rates of consanguinity among patients with bipolar I disorder (BPI) and controls in a population with customary consanguineous marriages (i.e., marriage between related individuals). Consanguinity increases risk for numerous monogenic and polygenic diseases. Whether the risk for BPI increases with consanguinity has not been investigated systematically. Two independent studies were conducted in Egypt: (1) Case-control study 93 patients with BPI, 90 screened adult control individuals, and available parents. The inbreeding coefficient/consanguinity rate was estimated in two ways: using 64 DNA polymorphisms ("DNA-based" rate); and from family history data ("self report"); (2) Epidemiological survey: total of 1,584 individuals were screened, from whom self-reported consanguinity data were obtained for identified BPI cases (n = 35) and 150 randomly selected, unaffected control individuals. DNA-based consanguinity rates showed significant case-control control differences (P=0.0039). Self-reported consanguinity rates were also elevated among BPI patients in both samples (Study #1 OR = 2.66, 95% confidence intervals, CI: 1.34, 5.29; Study #2: OR = 4.64, 95% CI: 2.01, 10.34). In conclusion, two independent, systematic studies indicate increased consanguinity among Egyptian BPI patients in the Nile delta region. Self-reported estimates of consanguinity are bolstered by DNA-based estimates, and both show significant case-control differences for BPI. (C) 2009 Wiley-Liss, Inc.