title: An association analysis between psychophysical characteristics and genome-wide gene expression changes in human adaptation to the extreme climate at the Antarctic Dome Argus.
abstract: Genome-wide gene expression measurements have enabled comprehensive studies that integrate the changes of gene expression and phenotypic information to uncover their novel associations. Here we reported the association analysis between psychophysical phenotypes and genome-wide gene expression changes in human adaptation to one of the most extreme climates on Earth, the Antarctic Dome Argus. Dome A is the highest ice feature in Antarctica, and may be the coldest, driest and windiest location on earth. It is considered unapproachable due to its hostile environment. In 2007, a Chinese team of 17 male explorers made the expedition to Dome A for scientific investigation. Overall, 133 psychophysical phenotypes were recorded, and genome-wide gene expression profiles from the blood samples of the explorers were measured before their departure and upon their arrival at Dome A. We found that mood disturbances, including tension (anxiety), depression, anger and fatigue, had a strong, positive, linear relationship with the level of a male sex hormone, testosterone, using the Pearson correlation coefficient (PCC) analysis. We also demonstrated that significantly lowest-level Gene Ontology groups in changes of gene expression in blood cells with erythrocyte removal were consistent with the adaptation of the psychophysical characteristics. Interestingly, we discovered a list of genes that were strongly related to significant phenotypes using phenotype and gene expression PCC analysis. Importantly, among the 70 genes that were identified, most were significantly related to mood disturbances, where 42 genes have been reported in the literature mining, suggesting that the other 28 genes were likely novel genes involved in the mood disturbance mechanism. Taken together, our association analysis provides a reliable method to uncover novel genes and mechanisms related to phenotypes, although further studies are needed.
authors.affiliation: United Laboratory of Polar Medical Sciences, State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences, Beijing, China.
authors.forename: C
authors.initials: C
authors.lastname: Xu
authors.affiliation: Department of Biochemistry and Molecular Biology, State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences, Peking Union Medical College, Tsinghua University, Beijing, China.
authors.forename: X
authors.initials: X
authors.lastname: Ju
authors.affiliation: School of Computer Science, Beijing Institute of Technology, Beijing, China.
authors.forename: D
authors.initials: D
authors.lastname: Song
authors.affiliation: Department of Biochemistry and Molecular Biology, State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences, Peking Union Medical College, Tsinghua University, Beijing, China.
authors.forename: F
authors.initials: F
authors.lastname: Huang
authors.affiliation: Luzhou Medical School Affiliated Hospital of Traditional Chinese Medicine, Sichuan, China.
authors.forename: D
authors.initials: D
authors.lastname: Tang
authors.affiliation: Department of Biochemistry and Molecular Biology, State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences, Peking Union Medical College, Tsinghua University, Beijing, China.
authors.forename: Z
authors.initials: Z
authors.lastname: Zou
authors.affiliation: Department of Computer Science, Informatics Institute and C.S. Bond Life Sciences Center, University of Missouri, Columbia, MO, USA.
authors.forename: C
authors.initials: C
authors.lastname: Zhang
authors.affiliation: Department of Computer Science, Informatics Institute and C.S. Bond Life Sciences Center, University of Missouri, Columbia, MO, USA.
authors.forename: T
authors.initials: T
authors.lastname: Joshi
authors.affiliation: School of Computer Science, Beijing Institute of Technology, Beijing, China.
authors.forename: L
authors.initials: L
authors.lastname: Jia
authors.affiliation: Center for Translational Medicine, Peking Union Medical College Hospital, Peking Union Medical College, Beijing, China.
authors.forename: W
authors.initials: W
authors.lastname: Xu
authors.affiliation: Center for Translational Medicine, Peking Union Medical College Hospital, Peking Union Medical College, Beijing, China.
authors.forename: K-F
authors.initials: KF
authors.lastname: Xu
authors.affiliation: United Laboratory of Polar Medical Sciences, State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences, Beijing, China.
authors.forename: Q
authors.initials: Q
authors.lastname: Wang
authors.affiliation: United Laboratory of Polar Medical Sciences, State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences, Beijing, China.
authors.forename: Y
authors.initials: Y
authors.lastname: Xiong
authors.affiliation: United Laboratory of Polar Medical Sciences, State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences, Beijing, China.
authors.forename: Z
authors.initials: Z
authors.lastname: Guo
authors.affiliation: United Laboratory of Polar Medical Sciences, State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences, Beijing, China.
authors.forename: X
authors.initials: X
authors.lastname: Chen
authors.affiliation: United Laboratory of Polar Medical Sciences, State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences, Beijing, China.
authors.forename: F
authors.initials: F
authors.lastname: Huang
authors.affiliation: Department of Biochemistry and Molecular Biology, State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences, Peking Union Medical College, Tsinghua University, Beijing, China.
authors.forename: J
authors.initials: J
authors.lastname: Xu
authors.affiliation: Department of Biochemistry and Molecular Biology, State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences, Peking Union Medical College, Tsinghua University, Beijing, China.
authors.forename: Y
authors.initials: Y
authors.lastname: Zhong
authors.affiliation: Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences, Peking Union Medical College, Tsinghua University, Beijing, China.
authors.forename: Y
authors.initials: Y
authors.lastname: Zhu
authors.affiliation: Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences, Peking Union Medical College, Tsinghua University, Beijing, China.
authors.forename: Y
authors.initials: Y
authors.lastname: Peng
authors.affiliation: Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences, Peking Union Medical College, Tsinghua University, Beijing, China.
authors.forename: L
authors.initials: L
authors.lastname: Wang
authors.affiliation: State Key Laboratory of Mycology, Institute of Microbiology, Chinese Academy of Sciences, Beijing, China.
authors.forename: X
authors.initials: X
authors.lastname: Zhang
authors.affiliation: MOE Key Laboratory of Bioinformatics and Bioinformatics Division, TNLIST/Department of Automation, Tsinghua University, Beijing, China.
authors.forename: R
authors.initials: R
authors.lastname: Jiang
authors.affiliation: Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, Shanghai, China.
authors.forename: D
authors.initials: D
authors.lastname: Li
authors.affiliation: 1] MOE Key Laboratory of Bioinformatics and Bioinformatics Division, TNLIST/Department of Automation, Tsinghua University, Beijing, China [2] Department of Computer Science and Engineering, University of California, Riverside, CA, USA.
authors.forename: T
authors.initials: T
authors.lastname: Jiang
authors.affiliation: Department of Computer Science, Informatics Institute and C.S. Bond Life Sciences Center, University of Missouri, Columbia, MO, USA.
authors.forename: D
authors.initials: D
authors.lastname: Xu
authors.affiliation: 1] United Laboratory of Polar Medical Sciences, State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences, Beijing, China [2] Department of Biochemistry and Molecular Biology, State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences, Peking Union Medical College, Tsinghua University, Beijing, China [3] Center for Translational Medicine, Peking Union Medical College Hospital, Peking Union Medical College, Beijing, China.
authors.forename: C
authors.initials: C
authors.lastname: Jiang
mesh_terms: D000222:Adaptation, Physiological / Q000502:physiology*; D000328:Adult; D000864:Antarctic Regions; D044466:Asian People / Q000523:psychology; D002980:Climate; D016206:Databases, Bibliographic / Q000706:statistics & numerical data; D015870:Gene Expression / Q000502:physiology*; D020869:Gene Expression Profiling; D056726:Genetic Association Studies; D015894:Genome, Human; D006801:Humans; D008297:Male; D008875:Middle Aged; D020411:Oligonucleotide Array Sequence Analysis; D010641:Phenotype; D011601:Psychophysics; D013223:Statistics as Topic; D013739:Testosterone / Q000378:metabolism
chemical_list: D013739:Testosterone