Tibetans are welt 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-cyc...Tibetans are welt 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 GCHI 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.展开更多
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...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.展开更多
Objective Aim of our study was to compare hematological parameters in Tibetan natives with those in Han migrants living on the Tibet plateau in order to determine the potential effects of age,gender,and ethnicity on h...Objective Aim of our study was to compare hematological parameters in Tibetan natives with those in Han migrants living on the Tibet plateau in order to determine the potential effects of age,gender,and ethnicity on hematological response to hypoxia.Methods Blood hemoglobin(Hb,g/dl),hematocrit(Hct,%),red blood cells(RBC,10~6/mm^3) were measured in 3 588 healthy Tibetan natives and 3 371 Han migrants ranging in age from 5 to 72 years,living at a mean altitudes of 2 664 m,3 813 m,4 525 m and 5 226 m.Results Hemoglobin(Hb) concentration analysis was made by multiple regression equations relating hemoglobin to altitude and age.For 2 093 Han males,Hb =9.612+ 0.001440xaltitude+ 0.06148 xage.For1 948 Tibetan males,Hb =12.202+ 0.000462xaltitude+ 0.02893 xage.For 1 278 Han females,Hb = 10.858+0.000939xaltitude+ 0.02632 xage.For 1 640 Tibetan females,Hb =11.402+ 0.000626xaltitude+ 0.00412 xage.Each of the four equations was statistically significant(P<0.001),and had variance(r2) of 0.86 or more,indicating that altitude and age accounted for at least 85%of the variation in hemoglobin levels.The coefficients for altitude and for age were higher(P<0.05) in Han males than in Tibetan males and higher(P<0.05)in Han females than in Tibetan females.The Tibetan postmenopausal females had higher Hb values than premenopausal females only presented at altitude above 4 000 m while this phenomenon was beginning at altitude of 2 664 m among Han females.Conclusion We conclude that gender and increasing age in Tibetans are associated with lower hemoglobin values than those in Han at high altitude,and we speculate that genetic factors seems to be important.展开更多
Maximal oxygen uptake(exercise capacity) is a vital parameter in the evaluation of adaptation to high altitude,providing an index of the integrated function of the oxygen transport system.Previous studies of maximal o...Maximal oxygen uptake(exercise capacity) is a vital parameter in the evaluation of adaptation to high altitude,providing an index of the integrated function of the oxygen transport system.Previous studies of maximal oxygen uptake in population at high altitude have mainly focused on adults and adolescents,though data on children are uncommon.Maximal oxygen uptake can be measured directly,using an oxygen analyser,or indirectly through the development of equations for estimation from the maximal power output(W_(max)).Such estimations and studies of the physiological aspects of children's capacity to work and live at different altitudes in Tibet ancestry were not reported previously,although differences similar to those seen in adults may be expected to occur.The present paper summarized the findings of studies on exercise capacity among children living at high altitude in Tibet.展开更多
Background:The echinococcosis is prevalent in 10 provinces/autonomous region in western and northern China.Epidemiological survey of echinococcosis in China in 2012 showed the average prevalence of four counties in Ti...Background:The echinococcosis is prevalent in 10 provinces/autonomous region in western and northern China.Epidemiological survey of echinococcosis in China in 2012 showed the average prevalence of four counties in Tibet Autonomous Region(TAR)is 4.23%,much higher than the average prevalence in China(0.24%).It is important to understand the transmission risks and the prevalence of echinococcosis in human and animals in TAR.Methods:A stratified and proportionate sampling method was used to select samples in TAR.The selected residents were examined by B-ultrasonography diagnostic,and the faeces of dogs were tested for the canine coproantigen against Echinococcus spp.using enzyme-linked immunosorbent assay.The internal organs of slaughtered domestic animals were examined by visual examination and palpation.The awareness of the prevention and control of echinococcosis among of residents and students was investigated using questionnaire.All data were inputted using double entry in the Epi Info database,with error correction by double-entry comparison,the statistical analysis of all data was processed using SPSS 21.0,and the map was mapped using ArcGIS 10.1,the data was tested by Chi-square test and Cochran-Armitage trend test.Results:A total of 80384 people,7564 faeces of dogs,and 2103 internal organs of slaughtered domestic animals were examined.The prevalence of echinococcosis in humans in TAR was 1.66%,the positive rate in females(1.92%)was significantly higher than that in males(1.41%),(X2=30.31,P<0.01),the positive rate of echinococcosis was positively associated with age(X2trend=-423.95,P<0.01),and the occupational populations with high positive rates of echinococcosis were herdsmen(3.66%)and monks(3.48%).The average positive rate of Echinococcus coproantigen in TAR was 7.30%.The positive rate of echinococcosis in livestock for the whole region was 11.84%.The average awareness rate of echinococcosis across the region was 33.39%.Conclusions:A high prevalence of echinococcosis is found across the TAR,representing a very serious concern to human health.Efforts should be made to develop an action plan for echinococcosis prevention and control as soon as possible,so as to control the endemic of echinococcosis and reduce the medical burden on the population.展开更多
基金supported by grants from the Strategic Priority Research Program of the Chinese Academy of Sciences(XDB13010000)the National Natural Science Foundation of China(91631306 to BS,31671329 to XQ,31460287 to Ou.,31501013 to HZ and 31360032 to CC)+2 种基金the National 973 program(2012CB518202 to TW)the State Key Laboratory of Genetic Resources and Evolution(GREKF15-05,GREKF16-04)the Zhufeng Scholar Program of Tibetan University
文摘Tibetans are welt 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 GCHI 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.
基金supported by grants from the Strategic Priority Research Program of the Chinese Academy of Sciences(XDB13010000)the National Natural Science Foundation of China(91631306 to BS,31671329 to XQ,31460287 to Ou,31501013 to HZ,and 31360032 to CC)+2 种基金the National 973 program(2012CB518202 to TW)the State Key Laboratory of Genetic Resources and Evolution(GREKF15-05,GREKF16-04)the Zhufeng Scholar Program of Tibetan University
文摘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.
基金supported by the "973" National Basic Research Program(2012 CB 518202,and "Pre-973" National Basic Research Program(2012 CB 722506)
文摘Objective Aim of our study was to compare hematological parameters in Tibetan natives with those in Han migrants living on the Tibet plateau in order to determine the potential effects of age,gender,and ethnicity on hematological response to hypoxia.Methods Blood hemoglobin(Hb,g/dl),hematocrit(Hct,%),red blood cells(RBC,10~6/mm^3) were measured in 3 588 healthy Tibetan natives and 3 371 Han migrants ranging in age from 5 to 72 years,living at a mean altitudes of 2 664 m,3 813 m,4 525 m and 5 226 m.Results Hemoglobin(Hb) concentration analysis was made by multiple regression equations relating hemoglobin to altitude and age.For 2 093 Han males,Hb =9.612+ 0.001440xaltitude+ 0.06148 xage.For1 948 Tibetan males,Hb =12.202+ 0.000462xaltitude+ 0.02893 xage.For 1 278 Han females,Hb = 10.858+0.000939xaltitude+ 0.02632 xage.For 1 640 Tibetan females,Hb =11.402+ 0.000626xaltitude+ 0.00412 xage.Each of the four equations was statistically significant(P<0.001),and had variance(r2) of 0.86 or more,indicating that altitude and age accounted for at least 85%of the variation in hemoglobin levels.The coefficients for altitude and for age were higher(P<0.05) in Han males than in Tibetan males and higher(P<0.05)in Han females than in Tibetan females.The Tibetan postmenopausal females had higher Hb values than premenopausal females only presented at altitude above 4 000 m while this phenomenon was beginning at altitude of 2 664 m among Han females.Conclusion We conclude that gender and increasing age in Tibetans are associated with lower hemoglobin values than those in Han at high altitude,and we speculate that genetic factors seems to be important.
基金the Network for University Cooperation Tibet-Norway for supporting this study
文摘Maximal oxygen uptake(exercise capacity) is a vital parameter in the evaluation of adaptation to high altitude,providing an index of the integrated function of the oxygen transport system.Previous studies of maximal oxygen uptake in population at high altitude have mainly focused on adults and adolescents,though data on children are uncommon.Maximal oxygen uptake can be measured directly,using an oxygen analyser,or indirectly through the development of equations for estimation from the maximal power output(W_(max)).Such estimations and studies of the physiological aspects of children's capacity to work and live at different altitudes in Tibet ancestry were not reported previously,although differences similar to those seen in adults may be expected to occur.The present paper summarized the findings of studies on exercise capacity among children living at high altitude in Tibet.
基金The survey funds are from public health project of central government transfer payment of China.
文摘Background:The echinococcosis is prevalent in 10 provinces/autonomous region in western and northern China.Epidemiological survey of echinococcosis in China in 2012 showed the average prevalence of four counties in Tibet Autonomous Region(TAR)is 4.23%,much higher than the average prevalence in China(0.24%).It is important to understand the transmission risks and the prevalence of echinococcosis in human and animals in TAR.Methods:A stratified and proportionate sampling method was used to select samples in TAR.The selected residents were examined by B-ultrasonography diagnostic,and the faeces of dogs were tested for the canine coproantigen against Echinococcus spp.using enzyme-linked immunosorbent assay.The internal organs of slaughtered domestic animals were examined by visual examination and palpation.The awareness of the prevention and control of echinococcosis among of residents and students was investigated using questionnaire.All data were inputted using double entry in the Epi Info database,with error correction by double-entry comparison,the statistical analysis of all data was processed using SPSS 21.0,and the map was mapped using ArcGIS 10.1,the data was tested by Chi-square test and Cochran-Armitage trend test.Results:A total of 80384 people,7564 faeces of dogs,and 2103 internal organs of slaughtered domestic animals were examined.The prevalence of echinococcosis in humans in TAR was 1.66%,the positive rate in females(1.92%)was significantly higher than that in males(1.41%),(X2=30.31,P<0.01),the positive rate of echinococcosis was positively associated with age(X2trend=-423.95,P<0.01),and the occupational populations with high positive rates of echinococcosis were herdsmen(3.66%)and monks(3.48%).The average positive rate of Echinococcus coproantigen in TAR was 7.30%.The positive rate of echinococcosis in livestock for the whole region was 11.84%.The average awareness rate of echinococcosis across the region was 33.39%.Conclusions:A high prevalence of echinococcosis is found across the TAR,representing a very serious concern to human health.Efforts should be made to develop an action plan for echinococcosis prevention and control as soon as possible,so as to control the endemic of echinococcosis and reduce the medical burden on the population.
