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3篇 您的检索式:作者名="Longli Kang"
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1Prioritizing natural-selection signals from the deep-sequencing genomic data suggests multi-variant adaptation in Tibetan highlanders显示文摘Human genetic adaptation to high altitudes(>2500 m)has been extensively studied over the last few years,but few functional adaptive genetic variants have been identified,largely owing to the lack of deep-genome sequencing data available to previous studies.Here,w e build a list of putative adaptive variants,including 63 missense,7 loss-of-function;1,298 evolutionarily conserved variants and 509 expression quantitative traits loci.Notably,the top signal of selection is located in TMEM 247,a transmembrane protein-coding gene.The Tibetan version of TMEM 247 harbors one high-frequency(76.3%)missense variant,rsl 16983452(c.248C>T;p.Ala83Val);with the T allele derived from archaic ancestry and carried by>94%of Tibetans but absent or in low frequencies(<3%)in non-Tibetan populations.The rsl 16983452-T is strongly and positively correlated with altitude and significantly associated with reduced hemoglobin concentration(p=5.78×10^-5),red blood cell count(p=5.72×10^-7)and hematocrit(p=2.57×10^-6).In particular,TMEM247-rs 116983452 shows greater effect size and better predicts the phenotypic outcome than any E P A S1 variants in association with adaptive traits in Tibetans.Modeling the interaction between TM£M247-rsl 16983452 and EPAS1 variants indicates weak but statistically significant epistatic effects.Our results support that multiple variants may jointly deliver the fitness of the Tibetans on the plateau,where a complex model is needed to elucidate the adaptive evolution mechanism.Lian Deng Chao Zhang Kai Yuan Yang Gao Yuwen Pan Xueling Ge Yaoxi He Yuan Yuan Yan Lu Xiaoxi Zhang Hao Chen Haiyi Lou Xiaoji Wang Dongsheng Lu Jiaojiao Liu Lei Tian Qidi Feng Asifullah Khan Yajun Yang Zi-Bing Jin Jian Yang Fan Lu Jia Qu Longli Kang Bing Su Shuhua Xu 2019National Science Review2019,6,6:9
2Using Composite Phenotypes to Reveal Hidden Physiological Heterogeneity in High-Altitude Acclimatization in a Chinese Han Longitudinal Cohort显示文摘Altitude acclimatization is a human physiological process of adjusting to the decreased oxygen availability.Since several physiological processes are involved and their correlations are complicated,the analyses of single traits are insufficient in revealing the complex mechanism of high-altitude acclimatization.In this study,we examined these physiological responses as the composite phenotypes that are represented by a linear combination of physiological traits.We developed a strategy that combines both spectral clustering and partial least squares path modeling(PLSPM)to define composite phenotypes based on a cohort study of 883 Chinese Han males.In addition,we captured 14 composite phenotypes from 28 physiological traits of high-altitude acclimatization.Using these composite phenotypes,we applied k-means clustering to reveal hidden population physiological heterogeneity in high-altitude acclimatization.Furthermore,we employed multivariate linear regression to systematically model(Models 1 and 2)oxygen saturation(SpO_(2))changes in high-altitude acclimatization and evaluated model fitness performance.Composite phenotypes based on Model 2 fit better than single trait-based Model 1 in all measurement indices.This new strategy of using composite phenotypes may be potentially employed as a general strategy for complex traits research such as genetic loci discovery and analyses of phenomics.Yi Li Yanyun Ma Kun Wang Menghan Zhang Yi Wang Xiaoyu Liu Meng Hao Xianhong Yin Meng Liang Hui Zhang Xiaofeng Wang Xingdong Chen Yao Zhang Wenyuan Duan Longli Kang Bin Qiao Jiucun Wang Li Jin 2021Phenomics2021,1,1:1
3The composite phenotype analysis identifies potential concerted responses of physiological systems to high altitude exposure显示文摘Environmental stresses,such as temperature,disease and altitude could induce systematic changes of biological systems which manifests as concerted responses across multiple systems within a certain period of time[1].High altitude acclimatization(HAA)refers to a series of adaptive physiological responses to hypoxic stress.Yi Li Meng Hao Zixin Hu Yanyun Ma Kun Wang Xiaoyu Liu Xianhong Yin Menghan Zhang Yi Wang Meng Liang Yuan Guo Lei Bao Shixuan Zhang Shiguan Le Chenyuan Wu Dayan Sun Yang Wei Fei Wu Rui Zhang Lingxian Zhu Hui Zhang Shuai jang Xingdong Chen Xiaofeng Wang Yao Zhang Longli Kang Wenyuan Duan Bin Qiao Jiucun Wang Li Jin 2023National Science Review2023,10,5:0
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