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针对双亲数据缺失的核心家庭的基因型相对风险及关联检验。

Genotype relative-risks and association tests for nuclear families with missing parental data.

作者信息

Schaid D J, Li H

机构信息

Section of Biostatistics, Mayo Clinic/Foundation, Rochester, MN 55905, USA.

出版信息

Genet Epidemiol. 1997;14(6):1113-8. doi: 10.1002/(SICI)1098-2272(1997)14:6<1113::AID-GEPI92>3.0.CO;2-J.

DOI:10.1002/(SICI)1098-2272(1997)14:6<1113::AID-GEPI92>3.0.CO;2-J
PMID:9433633
Abstract

The development of a new method for testing the association of genetic markers with disease is presented. This approach is applicable when sampling nuclear families with one or more affected siblings and when neither, one, or both parents are missing marker genotype data. All siblings, affected and not affected, are used to probabilistically infer the missing parental marker data. A likelihood ratio statistic, which treats marker allele frequencies as nuisance parameters, is presented to test whether all marker relative risks are equal to one (i.e., no marker association). This approach offers a solution to test for marker associations when parents are difficult to obtain.

摘要

本文介绍了一种用于测试基因标记与疾病关联的新方法的开发。当对有一个或多个患病兄弟姐妹的核心家庭进行抽样,且父母一方或双方缺失标记基因型数据时,这种方法适用。所有兄弟姐妹,无论患病与否,都用于概率性推断缺失的父母标记数据。提出了一种似然比统计量,将标记等位基因频率视为干扰参数,以测试所有标记相对风险是否等于1(即无标记关联)。当难以获取父母样本时,这种方法为测试标记关联提供了一种解决方案。

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