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全基因组关联研究揭示了影响大白猪 30 种血液学和血液临床生物化学特征中间表型的基因组区域。

Genome-wide association studies for 30 haematological and blood clinical-biochemical traits in Large White pigs reveal genomic regions affecting intermediate phenotypes.

机构信息

Department of Agricultural and Food Sciences, Division of Animal Sciences, University of Bologna, Viale G. Fanin 46, 40127, Bologna, Italy.

Department of Health Technology, Technical University of Denmark (DTU), Lyngby, 2800, Denmark.

出版信息

Sci Rep. 2019 May 7;9(1):7003. doi: 10.1038/s41598-019-43297-1.

Abstract

Haematological and clinical-biochemical parameters are considered indicators of the physiological/health status of animals and might serve as intermediate phenotypes to link physiological aspects to production and disease resistance traits. The dissection of the genetic variability affecting these phenotypes might be useful to describe the resilience of the animals and to support the usefulness of the pig as animal model. Here, we analysed 15 haematological and 15 clinical-biochemical traits in 843 Italian Large White pigs, via three genome-wide association scan approaches (single-trait, multi-trait and Bayesian). We identified 52 quantitative trait loci (QTLs) associated with 29 out of 30 analysed blood parameters, with the most significant QTL identified on porcine chromosome 14 for basophil count. Some QTL regions harbour genes that may be the obvious candidates: QTLs for cholesterol parameters identified genes (ADCY8, APOB, ATG5, CDKAL1, PCSK5, PRL and SOX6) that are directly involved in cholesterol metabolism; other QTLs highlighted genes encoding the enzymes being measured [ALT (known also as GPT) and AST (known also as GOT)]. Moreover, the multivariate approach strengthened the association results for several candidate genes. The obtained results can contribute to define new measurable phenotypes that could be applied in breeding programs as proxies for more complex traits.

摘要

血液学和临床生化参数被认为是动物生理/健康状况的指标,它们可能作为中间表型,将生理方面与生产和疾病抗性特征联系起来。对影响这些表型的遗传变异进行剖析,可能有助于描述动物的适应能力,并支持猪作为动物模型的有用性。在这里,我们通过三种全基因组关联扫描方法(单性状、多性状和贝叶斯)分析了 843 头意大利大白猪的 15 项血液学和 15 项临床生化特征。我们鉴定出 52 个与 30 个分析血液参数中的 29 个相关的数量性状位点(QTL),其中在猪 14 号染色体上发现了与嗜碱性粒细胞计数相关的最显著 QTL。一些 QTL 区域包含可能是明显候选基因的基因:胆固醇参数的 QTL 鉴定出了直接参与胆固醇代谢的基因(ADCY8、APOB、ATG5、CDKAL1、PCSK5、PRL 和 SOX6);其他 QTL 突出了编码所测酶的基因[ALT(也称为 GPT)和 AST(也称为 GOT)]。此外,多变量方法加强了对几个候选基因的关联结果。所获得的结果可以有助于定义新的可测量表型,这些表型可以作为更复杂特征的替代物应用于育种计划中。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/35f1/6504931/94d81a8fe17d/41598_2019_43297_Fig1_HTML.jpg

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