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Exploring multilocus associations of inflammation genes and colorectal cancer risk using hapConstructor

机译:使用hapConstructor探索炎症基因与大肠癌风险的多基因座关联

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摘要

BackgroundIn candidate-gene association studies of single nucleotide polymorphisms (SNPs), multilocus analyses are frequently of high dimensionality when considering haplotypes or haplotype pairs (diplotypes) and differing modes of expression. Often, while candidate genes are selected based on their biological involvement in a given pathway, little is known about the functionality of SNPs to guide association studies. Investigators face the challenge of exploring multiple SNP models to elucidate which variants, independently or in combination, might be associated with a disease of interest. A data mining module, hapConstructor (freely-available in Genie software) performs systematic construction and association testing of multilocus genotype data in a Monte Carlo framework. Our objective was to assess its utility to guide statistical analyses of haplotypes within a candidate region (or combined genotypes across candidate genes) beyond that offered by a standard logistic regression approach.
机译:背景技术在单核苷酸多态性(SNP)的候选基因关联研究中,当考虑单倍型或单倍型对(双倍型)和不同的表达方式时,多基因座分析通常具有较高的维度。通常,虽然候选基因是基于它们在给定途径中的生物学参与进行选择的,但对于SNP指导关联研究的功能知之甚少。研究人员面临着探索多种SNP模型以阐明哪些变异体(独立或组合)可能与目标疾病相关的挑战。数据挖掘模块hapConstructor(在Genie软件中免费提供)在Monte Carlo框架中执行多基因座基因型数据的系统构建和关联测试。我们的目标是评估其实用性,以指导对候选区域内的单倍型(或跨候选基因的组合基因型)的统计分析超出标准逻辑回归方法所提供的范围。

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