Which Genes are Involved? - Statistical Planning and Analysis of Human Genetic Samples
Which Genes are Involved? - Statistical Planning and Analysis of Human Genetic Samples
复制标题
涉及哪些基因？
DOI：
--
复制
发表时间：
2001
期刊：
影响因子：
--
通讯作者：
S. Nilsson
中科院分区：
文献类型：
--
作者：
S. Nilsson
本论文由六篇与人类遗传样本的统计规划和分析相关的论文组成。前四篇主要涉及统计方法，后两篇是遗传学和医学方面的应用论文。本文提出了一种估计位点特异性同胞相对危险度的方法。s（HLA）的推导，假设腹腔疾病的乘法模型。该方法是比较常用的。s（HLA）=0.25/ p 0 .在文献B中，基于模型假设，采用加权IBD评分对非参数均值检验进行了修正。还考虑了选择性取样。文C介绍并比较了几种检测多个患病儿童核心家庭连锁不平衡的类TDT统计量。本文研究了病例-对照设计下多位点关联分析中多重推断的D方法。这些方法的关键是封闭检验和病例对照标签的排列。在论文E中，候选基因CTLA 4显示与斯堪的纳维亚人群中的乳糜泻相关。在文件F中，检查了多发性硬化（MS）患者和无关对照的同胞CSF异常的发生率，以确定可用于寻找疾病基因的亚表型。
This thesis consists of six papers related to the statistical planning and analysis of human genetic samples. The first four mainly concern statistical methodology, while the last two are applied papers in genetics and medicin. In paper A an alternative method of estimating the locus specific sibling relative risk .lambda. s(HLA) is derived, assuming a multiplicative model in coeliac disease. The method is compared to the commonly used .lambda. s(HLA) =0.25/ p 0 . In paper B the nonparametric mean test is modified by using weighted IBD scores based on model assumptions. Selective sampling is also considered. In paper C some TDT-like statistics for detecting linkage disequilibrium with nuclear families of one of more affected children are introduced and compared. In paper D methods for multiple inference in association analysis of many loci using a case-control design are investigated. The keys to the methods are closed tests and permutation of case-control labels. In paper E the candidate gene CTLA4 is showed to be associated to coeliac disease in a Scandinavian population. In paper F the incidence of CSF abnormalities in siblings of multiple sclerosis (MS) patients and unrelated controls are examined in order to identify a subphenotype that can be utilised in the search for disease genes.