21 results on '"Xu, Shu-Hua"'
Search Results
2. Whole sequence analysis indicates a recent southern origin of Mongolian Y-chromosome C2c1a1a1-M407
- Author
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Huang, Yun-Zhi, Wei, Lan-Hai, Yan, Shi, Wen, Shao-Qing, Wang, Chuan-Chao, Yang, Ya-Jun, Wang, Ling-Xiang, Lu, Yan, Zhang, Chao, Xu, Shu-Hua, Yao, Da-Li, Jin, Li, and Li, Hui
- Published
- 2018
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3. Whole-sequence analysis indicates that the Y chromosome C2*-Star Cluster traces back to ordinary Mongols, rather than Genghis Khan
- Author
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Wei, Lan-Hai, Yan, Shi, Lu, Yan, Wen, Shao-Qing, Huang, Yun-Zhi, Wang, Ling-Xiang, Li, Shi-Lin, Yang, Ya-Jun, Wang, Xiao-Feng, Zhang, Chao, Xu, Shu-Hua, Yao, Da-Li, Jin, Li, and Li, Hui
- Published
- 2018
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4. Shared signature of recent positive selection on the TSBP1-BTNL2-HLA-DRA genes in five native populations from North Borneo
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Hoh, Boon Peng, Xiaoxi Zhang, Lian Deng, Kai Yuan, Yew, Chee Wei, Saw, Woei Yuh, Mohammad Zahirul Hoque, Farhang Aghakhanian, Maude E. Phipps, Vijay Kumar Subbiah, Xu, Shu hua, Hoh, Boon Peng, Xiaoxi Zhang, Lian Deng, Kai Yuan, Yew, Chee Wei, Saw, Woei Yuh, Mohammad Zahirul Hoque, Farhang Aghakhanian, Maude E. Phipps, Vijay Kumar Subbiah, and Xu, Shu hua
- Abstract
North Borneo (NB) is home to more than 40 native populations. These natives are believed to have undergone local adaptation in response to environmental challenges such as the mosquito-abundant tropical rainforest. We attempted to trace the footprints of natural selection from the genomic data of NB native populations using a panel of 2.2 million genome-wide single nucleotide polymorphisms. As a result, an 13-kb haplotype in the Major Histocompatibility Complex Class II region encompassing candidate genes TSBP1–BTNL2–HLA-DRA was identified to be undergoing natural selection. This putative signature of positive selection is shared among the five NB population sandis estimated to have arisen5.5thousand years(220generations) ago, which coincides with the period of Austronesian expansion. Owing to the long history of endemic malaria in NB, the putative signature of positive selection is postulated to be driven by Plasmodium parasite infection. The findings of this study imply that despite high levels of genetic differentiation, the NB populations might have experienced similar local genetic adaptation resulting from stresses of the shared environment.
- Published
- 2020
5. Paternal gene pool of Malays in Southeast Asia and its applications for the early expansion of Austronesians
- Author
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Sun, Jin, primary, Wei, Lan‐Hai, additional, Wang, Ling‐Xiang, additional, Huang, Yun‐Zhi, additional, Yan, Shi, additional, Cheng, Hui‐Zhen, additional, Ong, Rick Twee‐Hee, additional, Saw, Woei‐Yuh, additional, Fan, Zhi‐Quan, additional, Deng, Xiao‐Hua, additional, Lu, Yan, additional, Zhang, Chao, additional, Xu, Shu‐Hua, additional, Jin, Li, additional, Teo, Yik‐Ying, additional, and Li, Hui, additional
- Published
- 2020
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6. Semi-Supervised Boosting Using Similarity Learning Based on Modular Sparse Representation With Marginal Representation Learning of Graph Structure Self-Adaptive
- Author
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Xu, Shu Hua, primary and Gao, Fei, additional
- Published
- 2020
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7. GCH1 plays a role in the high-altitude adaptation of Tibetans
- Author
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Guo, Yong-Bo, He, Yao-Xi, Cui, Chao-Ying, Ou, zhuluobu, Bai, makangzhuo, Duo, jizhuoma, De, jiquzong, Bian, ba, Yi, Peng, Bai, Cai-juan, Gong, galanzi, Pan, Yong-Yue, la Qu, Kang, min, Ciren, yangji, Bai, mayangji, Guo, Wei, la Yang, Zhang, Hui, Zhang, Xiao-Ming, Zheng, Wang-Shan, Xu, Shu-Hua, Chen, Hua, Zhao, Sheng-Guo, Cai, Yuan, Liu, Shi-Ming, Tian-Yi, Wu, Qi, Xue-Bin, and Su, Bing
- Subjects
Positive selection ,Oxygen saturation ,Hypoxia adaptation ,Nitric oxide ,Articles ,Hemoglobin ,Biology ,Zoology ,GCH1 ,Tibetan - Abstract
Tibetans are well adapted to high-altitude hypoxia. Previous genome-wide scans have reported many candidate genes for this adaptation, but only a few have been studied. Here we report on a hypoxia gene (GCH1, GTP-cyclohydrolase I), involved in maintaining nitric oxide synthetase (NOS) function and normal blood pressure, that harbors many potentially adaptive variants in Tibetans. We resequenced an 80.8 kb fragment covering the entire gene region of GCH1 in 50 unrelated Tibetans. Combined with previously published data, we demonstrated many GCH1 variants showing deep divergence between highlander Tibetans and lowlander Han Chinese. Neutrality tests confirmed a signal of positive Darwinian selection on GCH1 in Tibetans. Moreover, association analysis indicated that the Tibetan version of GCH1 was significantly associated with multiple physiological traits in Tibetans, including blood nitric oxide concentration, blood oxygen saturation, and hemoglobin concentration. Taken together, we propose that GCH1 plays a role in the genetic adaptation of Tibetans to high altitude hypoxia.
- Published
- 2017
8. Author response: Novel genetic loci affecting facial shape variation in humans
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Xiong, Ziyi, primary, Dankova, Gabriela, additional, Howe, Laurence J, additional, Lee, Myoung Keun, additional, Hysi, Pirro G, additional, de Jong, Markus A, additional, Zhu, Gu, additional, Adhikari, Kaustubh, additional, Li, Dan, additional, Li, Yi, additional, Pan, Bo, additional, Feingold, Eleanor, additional, Marazita, Mary L, additional, Shaffer, John R, additional, McAloney, Kerrie, additional, Xu, Shu-Hua, additional, Jin, Li, additional, Wang, Sijia, additional, de Vrij, Femke MS, additional, Lendemeijer, Bas, additional, Richmond, Stephen, additional, Zhurov, Alexei, additional, Lewis, Sarah, additional, Sharp, Gemma C, additional, Paternoster, Lavinia, additional, Thompson, Holly, additional, Gonzalez-Jose, Rolando, additional, Bortolini, Maria Catira, additional, Canizales-Quinteros, Samuel, additional, Gallo, Carla, additional, Poletti, Giovanni, additional, Bedoya, Gabriel, additional, Rothhammer, Francisco, additional, Uitterlinden, André G, additional, Ikram, M Arfan, additional, Wolvius, Eppo, additional, Kushner, Steven A, additional, Nijsten, Tamar EC, additional, Palstra, Robert-Jan TS, additional, Boehringer, Stefan, additional, Medland, Sarah E, additional, Tang, Kun, additional, Ruiz-Linares, Andres, additional, Martin, Nicholas G, additional, Spector, Timothy D, additional, Stergiakouli, Evie, additional, Weinberg, Seth M, additional, Liu, Fan, additional, and Kayser, Manfred, additional
- Published
- 2019
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9. Paternal gene pool of Malays in Southeast Asia and its applications for the early expansion of Austronesians.
- Author
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Sun, Jin, Wei, Lan‐Hai, Wang, Ling‐Xiang, Huang, Yun‐Zhi, Yan, Shi, Cheng, Hui‐Zhen, Ong, Rick Twee‐Hee, Saw, Woei‐Yuh, Fan, Zhi‐Quan, Deng, Xiao‐Hua, Lu, Yan, Zhang, Chao, Xu, Shu‐Hua, Jin, Li, Teo, Yik‐Ying, and Li, Hui
- Subjects
Y chromosome ,TIME perception ,POPULATION differentiation ,ARCHAEOLOGISTS ,GENETICISTS ,GENES - Abstract
Objectives: The origin and differentiation of Austronesian populations and their languages have long fascinated linguists, archeologists, and geneticists. However, the founding process of Austronesians and when they separated from their close relatives, such as the Daic and Austro‐Asiatic populations in the mainland of Asia, remain unclear. In this study, we explored the paternal origin of Malays in Southeast Asia and the early differentiation of Austronesians. Materials and Methods: We generated whole Y‐chromosome sequences of 50 Malays and co‐analyzed 200 sequences from other Austronesians and related populations. We generated a revised phylogenetic tree with time estimation. Results: We identified six founding paternal lineages among the studied Malays samples. These founding lineages showed a surprisingly coincident expansion age at 5000 to 6000 years ago. We also found numerous mostly close related samples of the founding lineages of Malays among populations from Mainland of Asia. Conclusion: Our analyses provided a refined phylogenetic resolution for the dominant paternal lineages of Austronesians found by previous studies. We suggested that the co‐expansion of numerous founding paternal lineages corresponds to the initial differentiation of the most recent common ancestor of modern Austronesians. The splitting time and divergence pattern in perspective of paternal Y‐chromosome evidence are highly consistent with the previous theories of ethnologists, linguists, and archeologists. [ABSTRACT FROM AUTHOR]
- Published
- 2021
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10. Whole sequence analysis indicates a recent southern origin of Mongolian Y-chromosome C2c1a1a1-M407
- Author
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Huang, Yun-Zhi, primary, Wei, Lan-Hai, additional, Yan, Shi, additional, Wen, Shao-Qing, additional, Wang, Chuan-Chao, additional, Yang, Ya-Jun, additional, Wang, Ling-Xiang, additional, Lu, Yan, additional, Zhang, Chao, additional, Xu, Shu-Hua, additional, Yao, Da-Li, additional, Jin, Li, additional, and Li, Hui, additional
- Published
- 2017
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11. Phylogeography of Y-chromosome haplogroup O3a2b2-N6 reveals patrilineal traces of Austronesian populations on the eastern coastal regions of Asia
- Author
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Wei, Lan-Hai, primary, Yan, Shi, additional, Teo, Yik-Ying, additional, Huang, Yun-Zhi, additional, Wang, Ling-Xiang, additional, Yu, Ge, additional, Saw, Woei-Yuh, additional, Ong, Rick Twee-Hee, additional, Lu, Yan, additional, Zhang, Chao, additional, Xu, Shu-Hua, additional, Jin, Li, additional, and Li, Hui, additional
- Published
- 2017
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12. Reconstruction of Y-chromosome phylogeny reveals two neolithic expansions of Tibeto-Burman populations.
- Author
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Yan, Shi, Wang, Ling-Xiang, Huang, Yun-Zhi, Wen, Shao-Qing, Jin, Li, Li, Hui, Wei, Lan-Hai, Lu, Yan, Zhang, Chao, Xu, Shu-Hua, Wang, Chuan-Chao, and Mallick, Swapan
- Subjects
TIBETO-Burman peoples ,Y chromosome analysis ,GENETICS ,PHYLOGENY ,ARCHAEOLOGY - Abstract
Diffusion of Tibeto-Burman populations across the Tibetan Plateau led to the largest human community in a high-altitude environment and has long been a focus of research on high-altitude adaptation, archeology, genetics, and linguistics. However, much uncertainty remains regarding the origin, diversification, and expansion of Tibeto-Burman populations. In this study, we analyzed a 7.0M bp region of 285 Y-chromosome sequences, including 81 newly reported ones, from male samples from Tibeto-Burman populations and other related Eastern Asian populations. We identified several paternal lineages specific to Tibeto-Burman populations, and most of these lineages emerged between 6000 and 2500 years ago. A phylogenetic tree and lineage dating both support the hypothesis that the establishment of Tibeto-Burman ancestral groups was triggered by Neolithic expansions from the middle Yellow River Basin and admixtures with local populations on the Tibetan Plateau who survived the Paleolithic Age. Furthermore, according to the geographical distributions of the haplogroups, we propose that there are two Neolithic expansion origins for all modern Tibeto-Burman populations. Our research provides a clear scenario about the sources, admixture process and later diffusion process of the ancestor population of all Tibeto-Burman populations. [ABSTRACT FROM AUTHOR]
- Published
- 2018
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13. Gossypium barbadense genome sequence provides insight into the evolution of extra-long staple fiber and specialized metabolites
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Liu, Xia, primary, Zhao, Bo, additional, Zheng, Hua-Jun, additional, Hu, Yan, additional, Lu, Gang, additional, Yang, Chang-Qing, additional, Chen, Jie-Dan, additional, Chen, Jun-Jian, additional, Chen, Dian-Yang, additional, Zhang, Liang, additional, Zhou, Yan, additional, Wang, Ling-Jian, additional, Guo, Wang-Zhen, additional, Bai, Yu-Lin, additional, Ruan, Ju-Xin, additional, Shangguan, Xiao-Xia, additional, Mao, Ying-Bo, additional, Shan, Chun-Min, additional, Jiang, Jian-Ping, additional, Zhu, Yong-Qiang, additional, Jin, Lei, additional, Kang, Hui, additional, Chen, Shu-Ting, additional, He, Xu-Lin, additional, Wang, Rui, additional, Wang, Yue-Zhu, additional, Chen, Jie, additional, Wang, Li-Jun, additional, Yu, Shu-Ting, additional, Wang, Bi-Yun, additional, Wei, Jia, additional, Song, Si-Chao, additional, Lu, Xin-Yan, additional, Gao, Zheng-Chao, additional, Gu, Wen-Yi, additional, Deng, Xiao, additional, Ma, Dan, additional, Wang, Sen, additional, Liang, Wen-Hua, additional, Fang, Lei, additional, Cai, Cai-Ping, additional, Zhu, Xie-Fei, additional, Zhou, Bao-Liang, additional, Jeffrey Chen, Z., additional, Xu, Shu-Hua, additional, Zhang, Yu-Gao, additional, Wang, Sheng-Yue, additional, Zhang, Tian-Zhen, additional, Zhao, Guo-Ping, additional, and Chen, Xiao-Ya, additional
- Published
- 2015
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14. Phylogeography of Y-chromosome haplogroup O3a2b2-N6 reveals patrilineal traces of Austronesian populations on the eastern coastal regions of Asia.
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Yan, Shi, Huang, Yun-Zhi, Wang, Ling-Xiang, Yu, Ge, Li, Hui, Wei, Lan-Hai, Jin, Li, Teo, Yik-Ying, Saw, Woei-Yuh, Ong, Rick Twee-Hee, Lu, Yan, Zhang, Chao, and Xu, Shu-Hua
- Subjects
PHYLOGEOGRAPHY ,CHROMOSOMES ,POLYNESIANS ,GENETIC polymorphisms ,FOXTAIL millet - Abstract
Austronesian diffusion is considered one of the greatest dispersals in human history; it led to the peopling of an extremely vast region, ranging from Madagascar in the Indian Ocean to Easter Island in Remote Oceania. The Y-chromosome haplogroup O3a2b*-P164(xM134), a predominant paternal lineage of Austronesian populations, is found at high frequencies in Polynesian populations. However, the internal phylogeny of this haplogroup remains poorly investigated. In this study, we analyzed -seventeen Y-chromosome sequences of haplogroup O3a2b*-P164(xM134) and generated a revised phylogenetic tree of this lineage based on 310 non-private Y-chromosome polymorphisms. We discovered that all available O3a2b*-P164(xM134) samples belong to the newly defined haplogroup O3a2b2-N6 and samples from Austronesian populations belong to the sublineage O3a2b2a2-F706. Additionally, we genotyped a series of Y-chromosome polymorphisms in a large collection of samples from China. We confirmed that the sublineage O3a2b2a2b-B451 is unique to Austronesian populations. We found that O3a2b2-N6 samples are widely distributed on the eastern coastal regions of Asia, from Korea to Vietnam. Furthermore, we propose- that the O3a2b2a2b-B451 lineage represents a genetic connection between ancestors of Austronesian populations and ancient populations in North China, where foxtail millet was domesticated about 11,000 years ago. The large number of newly defined Y-chromosome polymorphisms and the revised phylogenetic tree of O3a2b2-N6 will be helpful to explore the origin of proto-Austronesians and the early diffusion process of Austronesian populations. [ABSTRACT FROM AUTHOR]
- Published
- 2017
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15. Application of composite stripping auxiliary for wool/polyester blended fabric.
- Author
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JIN Chong-ye, JIA Li-xia, and XU Shu-hua
- Abstract
Using the single stripping auxiliary obviously has many weaknesses and couldn't meet the requirements of actual production in terms of the effect and fiber damage for the wool/polyester blended fabric. Combined with dyeing properties of the blended fabric, the composite stripping auxiliary which consists of stannous chloride dihydrate, sodium dithionite and special stripping healanl can obviously improve the stripping effect as well as reduce the fiber damage through the analyses of its stripping performance under the given condition. The colour stripping-rate can reach to 40. 63%, meanwhile, the strength decrease-rate merely is 8 . 6 % by the method of its optimized formula. Of course, the novel stripping auxiliary really has a certain value for the application of actual production. [ABSTRACT FROM AUTHOR]
- Published
- 2015
16. Research of the technology of moisture absorption and sweat discharge fabric.
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YANG Li and XU Shu-hua
- Abstract
The articles introduces the special performance of the moisture absorption and sweat discharge fiber, and researches and designs the production technology reasonable and adaptation in the dyeing dyes selection, temperature control, spinning, weaving and finishing. The testing result shows that the moisture absorption and sweat discharge effect is more significant when use 30% moisture absorption and sweat discharge fiber, 50% wool fiber and 20% polyester to spin yarn into 15.62 tex X 2, dyeing temperature control at 120 ℃. and the construction is plain. This kind of the high-grade worsted summer fabric with moisture absorption and sweat discharge function can meet people ' s requirement. [ABSTRACT FROM AUTHOR]
- Published
- 2015
17. Analysis of sleep quality, disease uncertainty, and psychological tolerance in patients undergoing chemotherapy for digestive tract malignancies.
- Author
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Tang WW, Han ML, Xu SH, Deng YX, and Shen Q
- Abstract
Background: Colorectal cancer is the second leading cause of cancer-related deaths among digestive tract malignancies, following gastric cancer. Sleep is of great significance for maintaining human health. The incidence of sleep disorders in patients with cancer is approximately twice that observed in the general population. Lack of sleep can prolong hospital stays, increase the likelihood of infection, and increase mortality rates. Therefore, studying the factors related to sleep quality is significant for improving the quality of life of patients with malignant tumors of the digestive tract., Aim: To investigate the relationships among sleep quality, disease uncertainty, and psychological resilience in patients undergoing chemotherapy for digestive tract malignancies., Methods: A total of 131 patients with malignant digestive tract tumors who were treated at Hefei BOE Hospital between April 2021 and September 2022 were selected as research participants. Based on their Pittsburgh Sleep Quality Index (PSQI) scores, participants were divided into either the sleep disorder group (PSQI score > 7) or the normal sleep group (PSQI score ≤ 7). The clinical data-together with the Mishel Uncertainty in Illness Scale for Adults (MUIS-A) and Connor-Davidson Resilience Scale (CD-RISC) scores-were compared., Results: In this study, 78 (59.54%) patients with digestive tract malignancies developed sleep disorders after chemotherapy. Sleep disorder incidence was higher in patients with colorectal cancer than in those with gastric and esophageal cancers ( P < 0.05). The total MUIS-A score and those for each item in the sleep disorder group were higher than those in the normal sleep group. The total CD-RISC score and those for each item in the sleep disorder group were lower than those in the normal sleep group ( P < 0.05). The PSQI scores of patients with malignant digestive tract tumors were positively correlated with the scores for lack of disease information, disease uncertainty, and unpredictability in the MUIS-A and negatively correlated with the scores for tenacity, self-improvement, and optimism in the CD-RISC ( P < 0.05)., Conclusion: Patients undergoing chemotherapy for digestive tract malignancies are prone to sleep problems related to disease uncertainty and psychological resilience. Therefore, interventions can be implemented to improve their sleep quality., Competing Interests: Conflict-of-interest statement: All authors have no conflicts of interest to declare., (©The Author(s) 2024. Published by Baishideng Publishing Group Inc. All rights reserved.)
- Published
- 2024
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18. [Three-dimensional model analysis of obstructive sleep apnea hyponea syndrome patients with long-term treatment of oral appliances].
- Author
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Hu JX, Xu SH, Mou SX, DU CX, and Zhu M
- Subjects
- Bicuspid, Humans, Long-Term Care, Overbite, Sleep Apnea, Obstructive
- Abstract
Purpose: The aim of the study was to investigate the dental changes of patients with obstructive sleep apnea hypopnea syndrome (OSAHS) with long-term treatment of oral appliances, via the method of three-dimensional model analysis., Methods: Using Geomagic Studio 2014 software, we transferred the dental models, which were from 18 OSAHS patients before and after treatment of oral appliances, into three-dimensional models for digital analysis. Datasets obtained from pre- and after treatment were compared for accuracy via paired t test using SPSS 22.0 software package., Results: Eighteen patients using oral appliances for 6.57±1.98 years, showed significant differences in some dentition values between pre-treatment and after-treatment. The total dentition changes indicated intrusion of upper premolars, buccalization of upper posterior teeth and mesialization of lower posterior teeth. Statistical analysis demonstrated decrease in upper dental arch length, increase in upper posterior arch width and decrease in upper arch depth and dramatic reduction of overjet in anterior teeth. In the same time, other values evaluated showed no significant change before and after treatment of oral appliances., Conclusions: Long-term wearing oral appliances results in changes in several variables of dental occlusion, which should not be ignored for dentists conducting this treatment plan. However, the side effect of dental occlusion changes is little on a whole, leading to high security in this aspect.
- Published
- 2020
19. Novel genetic loci affecting facial shape variation in humans.
- Author
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Xiong Z, Dankova G, Howe LJ, Lee MK, Hysi PG, de Jong MA, Zhu G, Adhikari K, Li D, Li Y, Pan B, Feingold E, Marazita ML, Shaffer JR, McAloney K, Xu SH, Jin L, Wang S, de Vrij FM, Lendemeijer B, Richmond S, Zhurov A, Lewis S, Sharp GC, Paternoster L, Thompson H, Gonzalez-Jose R, Bortolini MC, Canizales-Quinteros S, Gallo C, Poletti G, Bedoya G, Rothhammer F, Uitterlinden AG, Ikram MA, Wolvius E, Kushner SA, Nijsten TE, Palstra RT, Boehringer S, Medland SE, Tang K, Ruiz-Linares A, Martin NG, Spector TD, Stergiakouli E, Weinberg SM, Liu F, and Kayser M
- Subjects
- Adolescent, Adult, Anatomic Landmarks, Body Patterning genetics, Child, Child, Preschool, Female, Gene Expression Regulation, Developmental genetics, Gene Ontology, Genetic Variation, Genome-Wide Association Study, Genotype, Humans, Imaging, Three-Dimensional, Male, Middle Aged, Multifactorial Inheritance, Polymorphism, Single Nucleotide, Young Adult, Face anatomy & histology, Genetic Loci genetics, Maxillofacial Development genetics, Phenotype
- Abstract
The human face represents a combined set of highly heritable phenotypes, but knowledge on its genetic architecture remains limited, despite the relevance for various fields. A series of genome-wide association studies on 78 facial shape phenotypes quantified from 3-dimensional facial images of 10,115 Europeans identified 24 genetic loci reaching study-wide suggestive association (p < 5 × 10
-8 ), among which 17 were previously unreported. A follow-up multi-ethnic study in additional 7917 individuals confirmed 10 loci including six unreported ones (padjusted < 2.1 × 10-3 ). A global map of derived polygenic face scores assembled facial features in major continental groups consistent with anthropological knowledge. Analyses of epigenomic datasets from cranial neural crest cells revealed abundant cis -regulatory activities at the face-associated genetic loci. Luciferase reporter assays in neural crest progenitor cells highlighted enhancer activities of several face-associated DNA variants. These results substantially advance our understanding of the genetic basis underlying human facial variation and provide candidates for future in-vivo functional studies., Competing Interests: ZX, GD, LH, ML, PH, Md, GZ, KA, DL, YL, BP, EF, MM, JS, KM, SX, LJ, SW, Fd, BL, SR, AZ, SL, GS, LP, HT, RG, MB, SC, CG, GP, GB, FR, AU, MI, EW, SK, TN, RP, SB, SM, KT, AR, NM, TS, ES, SW, FL, MK No competing interests declared, (© 2019, Xiong et al.)- Published
- 2019
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20. EP300 contributes to high-altitude adaptation in Tibetans by regulating nitric oxide production.
- Author
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Zheng WS, He YX, Cui CY, Ouzhu L, Deji Q, Peng Y, Bai CJ, Duoji Z, Gongga L, Bian B, Baima K, Pan YY, Qu, Kang M, Ciren Y, Baima Y, Guo W, Yang, Zhang H, Zhang XM, Guo YB, Xu SH, Chen H, Zhao SG, Cai Y, Liu SM, Wu TY, Qi XB, and Su B
- Subjects
- Adult, Base Sequence, E1A-Associated p300 Protein genetics, Female, Humans, Male, Polymorphism, Single Nucleotide, Quantitative Trait Loci, Tibet, Adaptation, Physiological, Altitude, E1A-Associated p300 Protein metabolism, Ethnicity, Nitric Oxide metabolism
- Abstract
The genetic adaptation of Tibetans to high altitude hypoxia likely involves a group of genes in the hypoxic pathway, as suggested by earlier studies. To test the adaptive role of the previously reported candidate gene EP300 (histone acetyltransferase p300), we conducted resequencing of a 108.9 kb gene region of EP300 in 80 unrelated Tibetans. The allele-frequency and haplotype-based neutrality tests detected signals of positive Darwinian selection on EP300 in Tibetans, with a group of variants showing allelic divergence between Tibetans and lowland reference populations, including Han Chinese, Europeans, and Africans. Functional prediction suggested the involvement of multiple EP300 variants in gene expression regulation. More importantly, genetic association tests in 226 Tibetans indicated significant correlation of the adaptive EP300 variants with blood nitric oxide (NO) concentration. Collectively, we propose that EP300 harbors adaptive variants in Tibetans, which might contribute to high-altitude adaptation through regulating NO production.
- Published
- 2017
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21. A comparative analysis of genetic diversity of candidate genes associated with type 2 diabetes in worldwide populations.
- Author
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Gong X, Zhang C, Yiliyasi·Aisa Y, Shi Y, Yang XW, NuersimanguliAosiman N, Guan YQ, and Xu SH
- Subjects
- Africa, Asian People genetics, Europe, Genome-Wide Association Study methods, Genotype, Humans, Diabetes Mellitus, Type 2 genetics, Genetic Predisposition to Disease genetics, Genetic Variation genetics
- Abstract
Over the last decade, a larger number of type 2 diabetes mellitus (T2DM) susceptible candidate genes have been reported by numerous genome-wide association studies (GWAS). Understanding the genetic diversity of these candidate genes among worldwide populations not only facilitates to elucidating the genetic mechanism of T2DM, but also provides guidance to further studies of pathogenesis of T2DM in any certain population. In this study, we identified 170 genes or genomic regions associated with T2DM by searching the GWAS databases and related literatures. We next analyzed the genetic diversity of these genes (or genomic regions) among present-day human populations by curetting the 1000 Genomes Projects phase1 dataset covering 14 worldwide populations. We further compared the characteristics of T2DM genes in different populations. No significant differences of genetic diversity were observed among the 14 worldwide populations between the T2DM candidate genes and the non-T2DM genes in terms of overall pattern. However, we observed some genes, such as IL20RA, RNMTL1-NXN, NOTCH2, ADRA2A-BTBD7P2, TBC1D4, RBM38-HMGB1P1, UBE2E2, and PPARD, show considerable differentiation between populations. In particular, IL20RA (FST=0.1521) displays the greatest population difference which is mainly contributed by that between Africans and non-Africans. Moreover, we revealed genetic differences between East Asians and Europeans on some candidate genes such as DGKB-AGMO (FST=0.173) and JAZF1 (FST=0.182). Our results indicate that some T2DM susceptible candidate genes harbor highly-differentiated variants between populations. These analyses, despite preliminary, should advance our understanding of the population difference of susceptibility to T2DM and provide insightful reference that future studies can relay on.
- Published
- 2016
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