CSIRO Food Futures Flagship, 306 Carmody Road, St Lucia, Brisbane QLD 4067, Australia.
Genet Sel Evol. 2014 Mar 24;46(1):22. doi: 10.1186/1297-9686-46-22.
The extent of linkage disequilibrium (LD) between molecular markers impacts genome-wide association studies and implementation of genomic selection. The availability of high-density single nucleotide polymorphism (SNP) genotyping platforms makes it possible to investigate LD at an unprecedented resolution. In this work, we characterised LD decay in breeds of beef cattle of taurine, indicine and composite origins and explored its variation across autosomes and the X chromosome.
In each breed, LD decayed rapidly and r2 was less than 0.2 for marker pairs separated by 50 kb. The LD decay curves clustered into three groups of similar LD decay that distinguished the three main cattle types. At short distances between markers (<10 kb), taurine breeds showed higher LD (r2=0.45) than their indicine (r2=0.25) and composite (r2=0.32) counterparts. This higher LD in taurine breeds was attributed to a smaller effective population size and a stronger bottleneck during breed formation. Using all SNPs on only the X chromosome, the three cattle types could still be distinguished. However for taurine breeds, the LD decay on the X chromosome was much faster and the background level much lower than for indicine breeds and composite populations. When using only SNPs that were polymorphic in all breeds, the analysis of the X chromosome mimicked that of the autosomes.
The pattern of LD mirrored some aspects of the history of breed populations and showed a sharp decay with increasing physical distance between markers. We conclude that the availability of the HD chip can be used to detect association signals that remained hidden when using lower density genotyping platforms, since LD dropped below 0.2 at distances of 50 kb.
分子标记之间的连锁不平衡(LD)程度会影响全基因组关联研究和基因组选择的实施。高密度单核苷酸多态性(SNP)基因分型平台的可用性使得以空前的分辨率研究 LD 成为可能。在这项工作中,我们描述了牛科动物的塔恩、印度和复合起源的品种中 LD 的衰减情况,并探讨了其在常染色体和 X 染色体上的变化。
在每个品种中,LD 迅速衰减,当标记对之间的距离为 50kb 时,r2 小于 0.2。LD 衰减曲线聚类为三组具有相似 LD 衰减的曲线,区分了三种主要的牛类型。在标记之间的短距离(<10kb),塔恩品种表现出较高的 LD(r2=0.45),而其印度品种(r2=0.25)和复合品种(r2=0.32)的 LD 较低。塔恩品种中较高的 LD 归因于较小的有效种群大小和在品种形成过程中的强烈瓶颈。仅使用 X 染色体上的所有 SNP,仍然可以区分这三种牛类型。然而,对于塔恩品种,X 染色体上的 LD 衰减速度要快得多,背景水平也要低于印度品种和复合种群。当仅使用所有品种中多态性的 SNP 进行分析时,X 染色体的分析类似于常染色体的分析。
LD 的模式反映了品种群体历史的某些方面,并随着标记之间物理距离的增加而迅速衰减。我们得出结论,高密度芯片的可用性可用于检测关联信号,这些信号在使用较低密度基因分型平台时会被隐藏,因为当标记之间的距离为 50kb 时,LD 降至 0.2 以下。