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STATISTICAL STUDIES OF MTDNA INVOLVEMENT IN DISEASES

MTDNA 参与疾病的统计研究

基本信息

批准号：
2856831
负责人：
Fengzhu Sun
金额：
$ 10.37万
依托单位：
EMORY UNIVERSITY
依托单位国家：
美国
项目类别：
财政年份：
1998
资助国家：
美国
起止时间：
1998-03-15 至 1999-12-31
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/2856831
关键词：
DNA chromosomes computer program /software computer simulation data collection data collection methodology /evaluation disease /disorder etiology gene mutation genetic models human data insulin dependent diabetes mellitus mathematical model method development mitochondrial DNA optic nerve disorder phenotype statistics /biometry

项目摘要

DESCRIPTION: (Adapted from Investigator's Abstract) The objective of this research is to develop statistical methods to assess whether mitochondrial DNA (mtDNA) mutations are involved in the etiology of disease and to estimate the contribution of mtDNA mutations to the disease. The specific aims are as follow: (1) to propose sampling schemes and test statistics to identify if mtDNA mutations are involved in a disease; to compare the power of the test statistics using different sampling schemes assuming mtDNA mutations are involved in the disease; (2) to study if mtDNA mutations are the primary cause of the disease or nuclear mutations may also be involved in the etiology of the disease; in the later case, study the interaction between mtDNA mutations and nuclear mutations; and (3) to estimate the contribution of mtDNA mutations to the disease. The test methods developed in this study will be evaluated and validated through simulation studies and will be applied to a collection of pedigrees for Leber's hereditary optic neuropathy (LHON), a disease known to be related to mtDNA mutations. The test methods and statistics will be applied to field studies on insulin-dependent diabetes mellitus (IDDM). Continuing collaborations on other complex diseases will be sought during the tenure of this project.

描述：（改编自研究者摘要）本研究的目的研究的目的是开发统计方法来评估线粒体是否 DNA (mtDNA) 突变参与疾病的病因学并导致估计 mtDNA 突变对疾病的影响。具体的目的如下： (1) 提出抽样方案并检验统计数据确定 mtDNA 突变是否与疾病有关；来比较功率假设 mtDNA 使用不同采样方案的检验统计量疾病涉及突变； (2) 研究线粒体DNA是否发生突变疾病的主要原因或核突变也可能涉及疾病的病因学；在后一种情况下，研究相互作用线粒体DNA突变和核突变之间； (3) 估计 mtDNA 突变对疾病的影响。本研究中开发的测试方法将得到评估和验证通过模拟研究并将应用于一系列谱系莱伯遗传性视神经病 (LHON)，一种已知的疾病与mtDNA突变有关。测试方法和统计数据将应用于实地研究胰岛素依赖型糖尿病（IDDM）。持续合作在该项目期间将寻找其他复杂疾病。