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全基因组关联分析利用单核苷酸多态性和微卫星标记识别与重组率相关的标记。

Whole-genome association analysis to identify markers associated with recombination rates using single-nucleotide polymorphisms and microsatellites.

机构信息

Program of Computational Biology and Bioinformatics, Yale University, New Haven, CT 06520, USA.

出版信息

BMC Genet. 2005 Dec 30;6 Suppl 1(Suppl 1):S51. doi: 10.1186/1471-2156-6-S1-S51.

Abstract

Recombination during meiosis is one of the most important biological processes, and the level of recombination rates for a given individual is under genetic control. In this study, we conducted genome-wide association studies to identify chromosomal regions associated with recombination rates. We analyzed genotype data collected on the pedigrees in the Collaborative Study on the Genetics on Alcoholism data provided by Genetic Analysis Workshop 14. A total of 315 microsatellites and 10,081 single-nucleotide polymorphisms from Affymetrix on 22 autosomal chromosomes were used in our association analysis. Genome-wide gender-specific recombination counts for family founders were inferred first and association analysis was performed using multiple linear regressions. We used the positive false discovery rate (pFDR) to account for multiple comparisons in the two genome-wide scans. Eight regions showed some evidence of association with recombination counts based on the single-nucleotide polymorphism analysis after adjusting for multiple comparisons. However, no region was found to be significant using microsatellites.

摘要

减数分裂过程中的重组是最重要的生物学过程之一,特定个体的重组率水平受遗传控制。在这项研究中,我们进行了全基因组关联研究,以确定与重组率相关的染色体区域。我们分析了由 Genetic Analysis Workshop 14 提供的酒精中毒遗传学协作研究中家系收集的基因型数据。我们的关联分析共使用了 22 条常染色体上来自 Affymetrix 的 315 个微卫星和 10081 个单核苷酸多态性。首先推断出家族创始人的全基因组性别特异性重组计数,然后使用多元线性回归进行关联分析。我们使用正错误发现率(pFDR)来考虑两个全基因组扫描中的多次比较。在调整了多次比较后,基于单核苷酸多态性分析,有 8 个区域显示出与重组计数相关的一些证据。然而,使用微卫星没有发现任何显著的区域。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5b86/1866732/2b82db40c39a/1471-2156-6-S1-S51-1.jpg

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