遗传 ›› 2013, Vol. 35 ›› Issue (2): 141-150.doi: 10.3724/SP.J.1005.2013.00141
周文婷1, 胡扬2
收稿日期:
2012-07-11
修回日期:
2012-08-31
出版日期:
2013-02-20
发布日期:
2013-02-25
通讯作者:
胡扬
E-mail:hyyr1@163.com
ZHOU Wen-Ting1, HU Yang2
Received:
2012-07-11
Revised:
2012-08-31
Online:
2013-02-20
Published:
2013-02-25
摘要: 急性高原病(Acute high altitude disease, AHAD)分为急性高原反应、高原肺水肿和高原脑水肿, 是高原特发病之一, 在高原旅居者中(>2 500 m)具有高发生率, 不仅影响人们的工作能力和健康, 而且可能危及生命。尽管AHAD的相关研究已开展百余年, 其病理生理机制仍不明确, 但大量研究已证实AHAD存在易感性的差异。文章综述了迄今为止AHAD的遗传易感性研究进展, 以期为AHAD的流行病学研究提供有益的参考资料。
周文婷,胡扬. 急性高原病的遗传易感性[J]. 遗传, 2013, 35(2): 141-150.
ZHOU Wen-Ting HU Yang. Genetic susceptibility for acute high altitude disease[J]. HEREDITAS, 2013, 35(2): 141-150.
[1] 郑然. 急性高原病易感人群预测模型、方法研究[学位论文]. 第三军医大学, 2005: 1-88.[2] 周文婷, 胡扬. 内分泌、遗传及运动——急性高原病发病机理、预测、诊断和干预. 北京体育大学学报, 2008, 31(10): 1342-1345.[3] Gallagher SA, Hackett PH. High-altitude illness. Emerg Med Clin North Am, 2004, 22(2): 329-355.[4] Ward MP, Milledge JS, West JB. High Altitude Medicine and Physiology. 3rd ed. Arnold, London, 2000: 50-300.[5] West JB. High life: a history of high-altitude physiology and medicine. New York: Oxford University, 1998.[6] Bartsch P, Bailey DM, Berger MM, Knauth M, Baumgartner RW. Acute mountain sickness: controversies and ad-vances. High Alt Med Biol, 2004, 5(2): 110-124.[7] Wagner DR, Fargo JD, Parker D, Tatsugawa K, Young TA. Variables contributing to acute mountain sickness on the summit of Mt Whitney. Wilderness Environ Med, 2006, 17(4): 221-228.[8] Schneider M, Bernasch D, Weymann J, Holle R, Bärtsch P. Acute mountain sickness: influence of susceptibility, pre-exposure, and ascent rate. Med Sci Sports Exerc, 2002, 34(12): 1886-1891.[9] Hackett PH, Roach RC. High-altitude illness. N Engl J Med, 2001, 345(2): 107-114.[10] Bartsch P, Maggiorini M, Ritter M, Noti C, Vock P, Oelz O. Prevention of high-altitude pulmonary edema by nifedipine. N Engl J Med, 1991, 325(18): 1284-1289.[11] Vock P, Fretz C, Franciolli M, Bärtsch P. High-altitude pulmonary edema: findings at high-altitude chest radiog-raphy and physical examination. Radiology, 1989, 170: 661-666.[12] Dehnert C, Weymann J, Montgomery HE, Woods D, Maggiorini M, Scherrer U, Gibbs JSR, Bärtsch P. No as-sociation between high-altitude tolerance and the ACE I/D gene polymorphism. Med Sci Sports Exerc, 2002, 34(12): 1928-1933.[13] 张雪峰, 候万春. 青藏高原急性高原肺水肿就地治疗临床探讨. 高原医学杂志, 1994, 4(4): 28-30.[14] Hultgren HN, Spickard WB, Hellriegel K, Houston CS. High altitude pulmonary edema. Medicine (Balti-more), 1961, 40(3): 289-313.[15] Fred HL, Schmidt AM, Bates T, Hecht HH. Acute pul-monary edema of altitude. Circulation, 1962, 25(6): 929-937.[16] Scoggin CH, Hyers TM, Reeves JT, Grover RF. High-al-titude pulmonary edema in the children and young adults of Leadville, Colorado. N Engl J Med, 1977, 297(23): 1269-1272.[17] Norboo T, Saiyed HN, Angchuk PT, Tsering P, Angchuk ST, Phuntsog ST, Yahya M, Wood S, Bruce NG, Ball KP. Mini review of high altitude health problems in Ladakh. Biomed Pharmacother, 2004, 58(4): 220-225.[18] Lorenzo VF, Yang YZ, Simonson TS, Nussenzvei R, Jorde LB, Prchal JT, Ge RL. Genetic adaptation to extreme hypoxia: study of high-altitude pulmonary edema in a three-generation Han Chinese family. Blood Cells Mol Dis, 2009, 43(3): 221-225.[19] 张华耀. 再论急性高原肺水肿家族易感性问题(跟踪一家族在40 年里祖孙三代病例摘要) . 中国应用生理学杂志, 2008, 24(3): 323-323.[20] Yaron M, Niermeyer S, Lindgren KN, Honigman B. Evaluation of diagnostic criteria and incidence of acute mountain sickness in preverbal children. Wilderness Environ Med, 2002, 13(1): 21-26.[21] Wu TY, Li SP, Ward MP. Tibetans at extreme altitude. Wilderness Environ Med, 2005, 16(1): 47-54.[22] Wu TY, Ding SQ, Liu JL, Yu MT, Jia JH, Duan JQ, Chai ZC, Dai RC, Zhang SL, Liang BZ, Zhao JZ, Qi DT, Sun YF, Kayser B. Reduced incidence and severity of acute mountain sickness in Qinghai-Tibet railroad construction workers after repeated 7-month exposures despite 5-month low altitude periods. High Alt Med Biol, 2009, 10(3): 221-232.[23] Gaillard S, Dellasanta P, Loutan L, Kayser B. Awareness, prevalence, medication use, and risk factors of acute mountain sickness in tourists trekking around the An-napurnas in Nepal: a 12-year follow-up. High Alt Med Biol, 2004, 5(4): 410-419.[24] Jean D, Leal C, Kriemler S, Meijer H, Moore LG. Medical recommendations for women going to altitude. High Alt Med Biol, 2005, 6(1): 22-31.[25] 马勇, 张西洲, 张玉宜, 刁斌, 李新菊, 闫相华, 张素萍. 30名女青年初入3700 m高原地区急性高原反应的调查. 西北国防医学杂志, 2000, 21(3): 196-197.[26] Basnyat B, Subedi D, Sleggs J, Lemaster J, Bhasyal G, Aryal B, Subedi N. Disoriented and ataxic pilgrims: an epidemiological study of acute mountain sickness and high-altitude cerebral edema at a sacred lake at 4300 m in the Nepal Himalayas. Wilderness Environ Med, 2000, 11(2): 89-93.[27] Schoene RB. Control of ventilation in climbers to extreme altitude. J Appl Physiol, 1982, 53(4): 886-890.[28] Ri-Li G, Chase PJ, Witkowski S, Wyrick BL, Stone JA, Levine BD, Babb TG. Obesity: associations with acute mountain sickness. Ann Intern Med, 2003, 139(4): 253-257.[29] Durmowicz AG. Pulmonary edema in 6 children with Down syndrome during travel to moderate altitudes. Pediatrics, 2001, 108(2): 443-447.[30] Brutsaert TD, Parra EJ, Shriver MD, Gamboa A, Rivera-Ch M, León-Velarde F. Ancestry explains the blunted ventilatory response to sustained hypoxia and lower exercise ventilation of Quechua altitude natives. Am J Physiol, 2005, 289(1): R225-R234.[31] Hetherington MM, Cecil JE. Gene-environment interac-tions in obesity. Forum Nutr, 2010, 63: 195-203.[32] Richalet JP, Chenivesse C, Larmignat P, Meille L. High altitude pulmonary edema, down syndrome, and obstruc-tive sleep apneas. High Alt Med Biol, 2008, 9(2): 179-181.[33] 李福祥. 线粒体DNA遗传突变与西南汉族急性高山病易感性相关研究[学位论文]. 第三军医大学, 2011.[34] Milledge JS, Catley DM. Angiotensin converting enzyme response to hypoxia in man: its role in altitude acclimatization. Clin Sci (Lond.), 1984, 67(4): 453-456.[35] Sayed-Tabatabaei FA, Schut AFC, Hofman A, Bertoli-Avella AM, Vergeer J, Witteman JC, van Duijn CM. A study of gene-environment interaction on the gene for angio-tensin converting enzyme: a combined functional and population based approach. J Med Genetics, 2004, 41(2): 99-103.[36] Droma Y, Hanaoka M, Basnyat B, Arjyal A, Neupane P, Pandit A, Sharma D, Ito M, Miwa N, Katsuyama Y, Ota M, Kubo K. Adaptation to high altitude in Sherpas: association with the insertion/deletion polymorphism in the An-giotensin-converting enzyme gene. Wilderness Environ Med, 2008, 19(1): 22-29.[37] Hotta J, Hanaoka M, Droma Y, Katsuyama Y, Ota M, Kobayashi T. Polymorphisms of rennin-angiotensin system genes with high-altitude pulmonary edema in Japa-nese subjects. Chest, 2004, 126(3): 825-830.[38] Charu R, Stobdan T, Ram RB, Khan AP, Qadar Pasha MA, Norboo T, Afrin F. Susceptibility to high altitude pulmonary oedema: role of ACE and ET-1 polymorphisms. Thorax, 2006, 61(11): 1011-1012.[39] Kumar R, Pasha Q, Khan AP, Gupta V. Renin angiotensin aldosterone system and ACE I/D gene polymorphism in high-altitude pulmonary edema. Aviat Space Environ Med, 2004, 75(11): 981-983.[40] Qi Y, Sun JY, Zhu TC, Wang W, Liu J, Zhou WY, Qiu CC, Zhao D. Association of angiotensin-converting enzyme gene insertion/deletion polymorphism with high-altitude pulmonary oedema: a meta-analysis. J Renin Angio-tensin Aldosterone Syst, 2011, 12(4): 617-623.[41] Tsianos G, Eleftheriou KI, Hawe E, Woolrich L, Watt M, Watt I, Peacock A, Montgomery H, Grant S. Performance at altitude and angiotensin I-converting enzyme genotype. Eur J Appl Physiol, 2005, 93(5-6): 630-633.[42] Kalson NS, Thompson J, Davies AJ, Stokes S, Earl MD, Whitehead A, Tyrrell-Marsh I, Frost H, Montgomery H. The effect of angiotensin-converting enzyme genotype on acute mountain sickness and summit success in trekkers attempting the summit of Mt. Kilimanjaro (5,895 m). Eur J Appl Physiol, 2009, 105(3): 373-379.[43] Morrell NW, Sarybaev AS, Alikhan A, Mirrakhimov MM, Aldashev AA. ACE genotype and risk of high altitude pulmonary hypertension in Kyrghyz highlanders. Lancet, 1999, 353(9155): 814-815.[44] Woods DR, Humphries SE, Montgomery HE. The ACE I/D polymorphism and human physical performance. Trends Endocrinol Metab, 2000, 11(10): 416-420.[45] Rupert JL, Kidd KK, Norman LE, Monsalve MV, Ho-chachka PW, Devine DV. Genetic polymorphisms in the renin-angiotensin system in high-altitude and low-altitude Native American populations. Ann Hum Genetics, 2003, 67(1): 17-25.[46] Zhu XF, Bouzekri N, Southam L, Cooper RS, Adeyemo A, McKenzie CA, Luke A, Chen GJ, Elston RC, Ward R. Linkage and association analysis of angiotensin I-converting enzyme (ACE)-gene polymorphisms with ACE concentra-tion and blood pressure. Am J Hum Genet, 2001, 68(5): 1139-1148.[47] Pan M, Zhu JH, Liu ZH, Jiang WP, Cui ZC, Yu XH, Li HM, Yang XJ. Angiotensin-converting enzyme gene 2350 G/A polymorphism is associated with left ventricular hypertrophy but not essential hypertension. Hypertens Res, 2007, 30(1): 31-37.[48] Bonnardeaux A, Davies E, Jeunemaitre X, Féry I, Charru A, Clauser E, Tiret L, Cambien F, Corvol P, Soubrier F. Angiotensin II type 1 receptor gene polymorphisms in human essential hypertension. Hypertension, 1994, 24(1): 63-69.[49] Zhu HD, Sagnella GA, Dong YB, Miller MA, Onipinla A, Makandu ND, MacGregor GA. Contrasting associations between aldosterone synthase gene polymorphisms and essential hypertension in blacks and in whites. J Hypertens, 2003, 21(1): 87-95.[50] Ahsan A, Charu R, Pasha MAQ, Norboo T, Afrin F, Baig MA. eNOS allelic variants at the same locus associate with HAPE and adaptation. Thorax, 2004, 59(11): 1000-1002.[51] Qadar Pasha MA, Charu R, Ahsan A, Norboo T. HAPE susceptibility associates with variants of genes of vascular homeostasis. Human Genome Mapping; Genomic Basis of Common Diseases. Poster abstract, 2005: 310.[52] Qi Y, Niu WQ, Zhu TC, Zhou WY, Qiu CC. Synergistic effect of the genetic polymorphisms of the rennin-angiotensin-aldosterone system on high-altitude pulmonary edema: a study from Qinghai-Tibet altitude. Eur J Epidemiol, 2008, 23(2): 143-152.[53] Koehle MS, Wang P, Guenette JA, Rupert JL. No association between variants in the ACE and angiotensin II receptor 1 genes and acute mountain sickness in Nepalese pilgrims to the Janai Purnima Festival at 4380 m. High Alt Med Biol, 2006, 7(4): 281-289.[54] Beall CM. Tibetan and andean patterns of adaptation to high-altitude hypoxia. Hum Biol, 2000, 72(1): 201-228.[55] Busch T, Bärtsch P, Pappert D, Grünig E, Hildebrandt W, Elser H, Falke KJ, Swenson ER. Hypoxia decreases ex-haled nitric oxide in mountaineers susceptible to high-al-titude pulmonary edema. Am J Respir Crit Care Med, 2001, 163(2): 368-373.[56] Pasha MAQ. Genomics of high altitude adaptation and maladaptation. High Altitude Med Bio, 2004, 5: 249-250.[57] Wang P, Ha AYN, Kidd KK, Koehle MS, Rupert JL. A variant of the endothelial nitric oxide synthase gene (NOS3) associated with AMS susceptibility is less common in the Quechua, a high altitude Native population. High Alt Med Biol, 2010, 11(1): 27-30.[58] Droma Y, Hanaoka M, Ota M, Katsuyama Y, Koizumi T, Fujimoto K, Kobayashi T, Kubo K. Positive association of the endothelial nitric oxide synthase gene polymorphisms with high-altitude pulmonary edema. Circulation, 2002, 106(7): 826-830.[59] Wang P, Koehle MS, Rupert JL. Genotype at the missense G894T polymorphism (Glu298Asp) in the NOS3 gene is associated with the susceptibility to acute moun-tain sickness. High Alt Med Biol, 2009, 10(3): 261-267.[60] Weiss J, Haefeli WE, Gasse C, Hoffmann MM, Weyman J, Gibbs S, Mansmann U, Bärtsch P. Lack of evidence for association of high altitude pulmonary edema and poly-morphisms of the NO pathway. High Alt Med Biol, 2003, 4(3): 355-366.[61] Ahsan A, Norboo T, Baig MA, Pasha MAQ. Simultaneous selection of wild-type genotypes of G894T and 4b/4a polymorphisms of NOS3 gene associates with HA adaptation. Ann Hum Genet, 2005, 69(3): 260-267.[62] 周文婷, 胡扬, 徐飞, 邢亚卫, 衣龙彦. eNOS基因多态性与急性高山病低氧运动习服效果的关联研究. 体育科学, 2010, 30(6): 72-75.[63] Saxena S, Kumar R, Madan T, Gupta V, Muralidhar K, Sarma PU. Association of polymorphisms in pulmonary surfactant protein A1 and A2 genes with high-altitude pulmonary edema. Chest, 2005, 128(3): 1611-1619.[64] Gelfi C, De Palma S, Ripamonti M, Eberin I, Wait R, Ba-jracharya A, Marconi C, Schneider A, Hoppeler H, Cerre-telli P. New aspects of altitude adaptation in Tibetans: a pro-teomic approach. FASEB J, 2004, 18(3): 612-614.[65] 蒋长征, 李芳泽, 何美安, 孙蜀勇, 张淑玉, 廖蓉, 贾树雅, 曾化松, 邬堂春. 谷胱甘肽转硫酶M1和T1基因型与高原反应的危险性. 中华劳动卫生职业病杂志, 2005, 23(3): 188-190.[66] 李芳泽, 周舫, 蒋长征, 孙蜀勇, 何美安, 张淑玉, 廖蓉, 曾化松, 吴逸明, 邬堂春. 热应激蛋白70基因多态性与急性高原反应的关系. 中华劳动卫生职业病杂志, 2004, 22(6): 413-415.[67] 周舫, 李芳泽, 蒋长征, 孙蜀勇, 何美安, 张淑玉, 廖蓉, 贾树雅, 曾化松, 吴逸明, 邬堂春. HSP70-hom基因多态性与高原反应易感性的关系. 工业卫生与职业病, 2005, 31(1): 29-31.[68] Qi Y, Niu WQ, Zhu TC, Liu JL, Dong WY, Xu Y, Ding SQ, Cui CB, Pan YJ, Yu GS, Zhou WY, Qiu CC. Genetic interaction of Hsp70 family genes polymorphisms with high-altitude pulmonary edema among Chinese railway constructors at altitudes exceeding 4000 meters. Clin Chim Acta, 2009, 405(1-2): 17-22.[69] Hanaoka M, Kubo K, Yamazaki Y, Miyahara T, Matsuzawa Y, Kobayashi T, Sekiguchi M, Ota M, Watanabe H. Association of high-altitude pulmonary edema with the major histocompatibility complex. Circulation, 1998, 97(12): 1124-1128.[70] Mazzeo RS, Reeves JT. Adrenergic contribution during acclimatization to high altitude: perspectives from Pikes Peak. Exerc Sport Sci Rev, 2003, 31(1): 13-18.[71] Wang P, Koehle MS, Rupert JL. Common haplotypes in the β-2 adrenergic receptor gene are not associated with acute mountain sickness susceptibility in Nepalese. High Alt Med Biol, 2007, 8(3): 206-212.[72] Stobdan T, Kumar R, Mohammad G, Thinlas T, Norboo T, Iqbal M, Pasha MAQ. Probable role of β2-adrenergic receptor gene haplotype in high-altitude pulmonary oedema. Respirology, 2010, 15(4): 651-658.[73] 齐玥, 刘京亮, 徐英, 董维亚, 丁守全, 于国书, 朱桐春, 邱长春. GNB3、ADD1和ADRB2基因多态性可能与高原肺水肿发病无关. 基础医学与临床, 2009, 29(8): 811-815.[74] 李福祥, 戢福云. 急性高山病发病机制的研究进展. 解放军医学杂志, 2011, 36(4): 413-415.[75] 李广平. 高原脑水肿的遗传易感性研究[学位论文]. 中国协和医科大学, 2007.[76] MacInnis MJ, Koehle MS, Rupert JL. Evidence for a genetic basis for altitude illness: 2010 update. High Alt Med Biol, 2010, 11(4): 249-268.[77] Smith TG, Robbins PA, Ratcliffe PJ. The human side of hypoxia-inducible factor. Br J Haematol, 2008, 141(3): 325-334.[78] Droma Y, Ota M, Hanaoka M, Katsuyama Y, Basnyat B, Neupan P, Arjyal A, Pandit A, Sharma D, Ito M, Kubo K. Two hypoxia sensor genes and their association with symptoms of acute mountain sickness in Sherpas. Aviat Space Environ Med, 2008, 79(11): 1056-1060.[79] 罗勇军, 陈郁, 高钰琪. 线粒体基因组4977bp异质性缺失与高原肺水肿易感性无关. 第三军医大学学报, 2011, 33(23): 2537-2538.[80] Luo YJ, Gao WX, Chen Y, Liu FY, Gao YQ. Rare Mito-chondrial DNA polymorphisms are associated with high altitude pulmonary edema (HAPE) susceptibility in Han Chinese. Wilderness Environ Med, 2012, 23(2): 128-132.[81] Hanaoka M, Droma Y, Hotta J, Matsuzawa Y, Kobayashi T, Kubo K, Ota M. Polymorphisms of the tyrosine hy-droxylase gene in subjects susceptible to high-altitude pulmonary edema. Chest, 2003, 123(1): 54-58.[82] Hanaoka M, Droma Y, Ota M, Ito M, Katsuyama Y, Kubo K. Polymorphisms of human vascular endothelial growth factor gene in high-altitude pulmonary oedema susceptible subjects. Respirology, 2009, 14(1): 46-52.[83] Wang P, Koehle MS, Rupert JL. No association between alleles of the bradykinin receptor-B2 gene and acute mountain sickness. Exp Biol Med, 2010, 235(6): 737-740.[84] 周文婷, 胡扬, 徐飞. ANP基因多态性对AMS发生及低氧习服效果的影响. 北京体育大学学报, 2010, 33(12): 45-47. |
[1] | 张競文,续倩,李国亮. 癌症发生发展中的表观遗传学研究[J]. 遗传, 2019, 41(7): 567-581. |
[2] | 邢万金. 乳糖操纵子模型的建立与教学中若干问题的解析[J]. 遗传, 2019, 41(6): 548-563. |
[3] | 马志鹏, 陈军. 无义突变与“遗传补偿效应”[J]. 遗传, 2019, 41(5): 359-364. |
[4] | 吴燕华, 范慧慧, 钱榕, 曾勇, 姚瑶, 林娟, 卢大儒, 丁妍, 乔守怡. 一致性建构原则下遗传学混合式教学设计与实践[J]. 遗传, 2019, 41(5): 439-446. |
[5] | 孙兆庆, 闫波. 转录因子GATA6在心血管疾病中的作用及其调控机制[J]. 遗传, 2019, 41(5): 375-383. |
[6] | 吴凯,罗朝晖. 昆虫学案例在遗传学教学中的应用[J]. 遗传, 2019, 41(4): 349-358. |
[7] | 周萌,景军红,毛瑞涵,郭静,王志鹏. 代谢组学在家养动物遗传育种中的应用[J]. 遗传, 2019, 41(2): 111-124. |
[8] | 陈建民. 植物遗传学中的世代及符号应用的建议[J]. 遗传, 2018, 40(6): 508-514. |
[9] | 张丽, 徐海冬, 冷奇颖, 刘艳芬, 赵志辉, 效梅, 吴江, 张权, 安立龙. 鸡快慢羽性状遗传学基础分析综合实验探索与实践[J]. 遗传, 2018, 40(3): 250-256. |
[10] | 马磊, 张婷婷. 应用嵌合基因实例拓展遗传学染色体畸变的教学[J]. 遗传, 2018, 40(12): 1129-1135. |
[11] | 陈德富,卢大儒,张飞雄,张根发. 中国遗传学教学40年发展及展望[J]. 遗传, 2018, 40(10): 916-923. |
[12] | 文莹, 张立新. 阿维菌素的中国“智”造[J]. 遗传, 2018, 40(10): 888-899. |
[13] | 贺竹梅,别林赛,李蔚. 医学病例在高校普通遗传学教学中的运用[J]. 遗传, 2018, 40(1): 75-85. |
[14] | 黄雪盈,范凯,叶炎芳,汪斌,吴为人,兰涛. 基于SSLP分子标记验证遗传学三大定律的教学实践探索与体会[J]. 遗传, 2017, 39(9): 856-862. |
[15] | 马小英,赵颖岚,贾方兴,宋亚坤,谢宇聪. 秀丽隐杆线虫在高校遗传学实验中的应用[J]. 遗传, 2017, 39(8): 763-768. |
阅读次数 | ||||||
全文 |
|
|||||
摘要 |
|
|||||
www.chinagene.cn
备案号:京ICP备09063187号-4
总访问:,今日访问:,当前在线: