Shoukri Mohamed M, Donner Allan, Dessouky Nadia Abdalla, Subhani Shazia, Al-Joufan Mansour, Al-Omrani Ahmed, Al-Mohanna Futwan, Al Halees Zohair Y
King Faisal Specialist Hospital and Research Centre, Saudi Arabia.
Int J Biostat. 2010;6(1):Article 3. doi: 10.2202/1557-4679.1216.
Family studies are widely used for research into genetic and environmental influences on human traits. In this paper, we establish statistical methodology for the estimation of a new measure of sib similarity with respect to dichotomous traits measured on each member of within family sib-pair. We call this parameter "excess risk." For inference problems involving a single sample, we construct a large sample confidence interval on the concerned parameter. It has long been suspected that consanguinity is a risk factor for many genetic defects. Therefore, we establish a procedure to test the significance of the difference between excess risk parameters in a sample of consanguineous marriages and another sample of non-consanguineous marriages. We apply the methodology to data from a hospital-based congenital heart defects registry in Saudi Arabia, a population in which consanguinity is quite common.
家系研究被广泛用于探究遗传和环境对人类性状的影响。在本文中，我们建立了统计方法，用于估计家庭内同胞对中每个成员所测量的二分性状的同胞相似性新度量。我们将此参数称为“超额风险”。对于涉及单个样本的推断问题，我们构建了关于相关参数的大样本置信区间。长期以来，人们一直怀疑近亲结婚是许多遗传缺陷的一个风险因素。因此，我们建立了一种程序，用于检验近亲结婚样本和非近亲结婚样本中超额风险参数之间差异的显著性。我们将该方法应用于沙特阿拉伯一个基于医院的先天性心脏病登记处的数据，在该人群中近亲结婚相当普遍。
