title: Targeted resequencing of GWAS loci reveals novel genetic variants for milk production traits.
abstract: BACKGROUND
  Genome wide association study (GWAS) has been proven to be a powerful tool for detecting genomic variants associated with complex traits. However, the specific genes and causal variants underlying these traits remain unclear.
  
  
  RESULTS
  Here, we used target-enrichment strategy coupled with next generation sequencing technique to study target regions which were found to be associated with milk production traits in dairy cattle in our previous GWAS. Among the large amount of novel variants detected by targeted resequencing, we selected 200 SNPs for further association study in a population consisting of 2634 cows. Sixty six SNPs distributed in 53 genes were identified to be associated significantly with on milk production traits. Of the 53 genes, 26 were consistent with our previous GWAS results. We further chose 20 significant genes to analyze their mRNA expression in different tissues of lactating cows, of which 15 were specificly highly expressed in mammary gland.
  
  
  CONCLUSIONS
  Our study illustrates the potential for identifying causal mutations for milk production traits using target-enrichment resequencing and extends the results of GWAS by discovering new and potentially functional mutations.
authors.forename: Li
authors.initials: L
authors.lastname: Jiang
authors.forename: Xuan
authors.initials: X
authors.lastname: Liu
authors.forename: Jie
authors.initials: J
authors.lastname: Yang
authors.forename: Haifei
authors.initials: H
authors.lastname: Wang
authors.forename: Jicai
authors.initials: J
authors.lastname: Jiang
authors.forename: Lili
authors.initials: L
authors.lastname: Liu
authors.forename: Sang
authors.initials: S
authors.lastname: He
authors.forename: Xiangdong
authors.initials: X
authors.lastname: Ding
authors.forename: Jianfeng
authors.initials: J
authors.lastname: Liu
authors.affiliation: National Engineering Laboratory for Animal Breeding; Key Laboratory of Animal Genetics, Breeding and Reproduction, Ministry of Agriculture of China; College of Animal Science and Technology, China Agricultural University, Beijing 100193, China. qzhang@cau.edu.cn.
authors.forename: Qin
authors.initials: Q
authors.lastname: Zhang
mesh_terms: D000818:Animals; D002417:Cattle; D056426:Genetic Loci; D016678:Genome; D055106:Genome-Wide Association Study; D005838:Genotype; D059014:High-Throughput Nucleotide Sequencing; D007774:Lactation / Q000235:genetics; D008892:Milk / Q000378:metabolism*; D020641:Polymorphism, Single Nucleotide; D012333:RNA, Messenger / Q000378:metabolism; D017422:Sequence Analysis, DNA
chemical_list: D012333:RNA, Messenger