精氨酸加压素基因多态性在广西人群中的分布

向阳 郭静 蓝艳 罗宏成 黄华佗 韦叶生*

doi:10.16098/j.issn.0529-1356.2016.04.016

PDF(354 KB)

解剖学报 ›› 2016, Vol. 47 ›› Issue (4) : 528-533. DOI: 10.16098/j.issn.0529-1356.2016.04.016

人类学

精氨酸加压素基因多态性在广西人群中的分布

向阳¹郭静² 蓝艳² 罗宏成¹黄华佗¹ 韦叶生^1*

作者信息 +

Distribution of the genetic polymorphism of arginine-vasopressin gene in Guangxi population

XIANG Yang¹GUO Jing² LAN Yan² LUO Hong-cheng¹ HUANG Hua-tuo¹ WEI Ye-sheng ^1*

Author information +

文章历史 +

摘要

目的探讨精氨酸加压素(AVP)基因单核苷酸多态性（SNP）位点rs2282018、rs3787482和rs1887854在303例广西人群中的分布，并对比不同族群间AVP基因型及等位基因频率分布的差别。方法采用单碱基延伸的聚合酶链反应（PCR）技术和DNA测序法，检测303例广西人AVP基因多态性，分析广西人群3个位点的基因型和等位基因的分布频率，并与人类基因组计划（HapMap）公布的欧洲人、中国北京汉族人、日本人和非洲人的基因多态性分型数据比较，分析这5个人群人类的基因型及等位基因的分布频率。结果我国广西人群AVP基因rs2282018、rs3787482及rs1887854位点各自具有3种基因型，基因型和等位基因分布与性别无关。与人类基因组计划（HapMap）公布的欧洲人、非洲人、日本人和中国北京人的单核苷酸多态性分型数据进行比较，广西人群AVP基因不同多态性位点的基因型和等位基因频率在不同地区人群的分布存在差异。结论广西地区人群中存在AVP基因多态性。广西人群AVP基因多态性的分布频率与其他不同地区种族人群比较存在差异。

Abstract

Objective To study the frequencies of allele and genotype distribution of arginine-vasopressin (AVP) gene rs2282018, rs3787482 and rs1887854 single nucleotide polymorphism (SNP) in 303 Chinese Guangxi population, and to compare the distribution differences among different ethnicses. Methods Polymerase chain reaction-single base extension (PCR-SBE) technique and DNA sequencing were taken to detect the allele and genotype frequencies of the AVP gene among 303 Chinese Guangxi population, and they were compared with other four populations (HapMap-CEU, HapMap-YRI, HapMap-JPT, HapMap-HCB) from Human Genome Project group (HapMap) data. Results We found that there were AVP gene polymorphisms in Guangxi populations. Comparing with other four populations, and the frequencies of allele and genotype distribution of AVP gene rs2282018 polymorphism had significant difference between Guangxi and HapMap-YRI populations. The frequencies of allele and genotype distribution of AVP gene rs3787482 polymorphism had significant difference between Guangxi and HapMap-YRI，HapMap-CEU populations. The frequencies of allele and genotype distribution of AVP gene rs1887854 polymorphism had significant difference between Guangxi and HapMap-YRI, HapMap-CEU and HapMap-Han populations. The distribution frequencies of AVP gene were significantly different compared with other ethnic population. Conclusion These differences may account for the different morbidity of AVP-related disease among ethnicses. It may play an important role on the studies of population genetics and anthropology.

导出引用

向阳郭静蓝艳罗宏成黄华佗韦叶生. 精氨酸加压素基因多态性在广西人群中的分布[J]. 解剖学报. 2016, 47(4): 528-533 https://doi.org/10.16098/j.issn.0529-1356.2016.04.016

XIANG Yang GUO Jing LAN Yan LUO Hong-cheng HUANG Hua-tuo WEI Ye-sheng. Distribution of the genetic polymorphism of arginine-vasopressin gene in Guangxi population[J]. Acta Anatomica Sinica. 2016, 47(4): 528-533 https://doi.org/10.16098/j.issn.0529-1356.2016.04.016

参考文献

［1］Singh Ranger G. The physiology and emerging roles of antidiuretic hormone［J］. Int J Clin Pract, 2002, 56(10):777-782.

［2］Charmandari E, Tsigos C, Chrousos G. Endocrinology of the stress response［J］. Annu Rev Physiol, 2005, 67:259-284.

［3］Goncharova ND. Stress responsiveness of the hypothalamic-pituitary-adrenal axis: age-related features of the vasopressinergic regulation［J］. Front Endocrinol (Lausanne), 2013, 4:1-15.

［4］Van Haren RM, Thorson CM, Ogilvie MP, et al.Vasopressin for cerebral perfusion pressure management in patients with severe traumatic braininjury: preliminary results of a randomized controlled trial［J］. J Trauma Acute Care Surg, 2013, 75(6):1024-1030.

［5］Chen X, Lu G, Tang K, et al. The secretion patterns and roles of cardiac and circulating arginine vasopressin during the development of heart failure［J］. Neuropeptides, 2015, 51:63-73.

［6］Boertien WE, Meijer E, Li J, et al. Relationship of copeptin, a surrogate marker for arginine vasopressin, with change in total kidney volume and GFR decline in autosomal dominant polycystic kidney disease: results from the CRISP cohort［J］. Am J Kidney Dis, 2013, 61(3):420-429.

［7］Zhao XY, Wu CF, Yang J, et al. Effect of arginine vasopressin on the cortex edema in the Ischemic stroke of Mongolian gerbils［J］. Neuropeptides, 2015, 51:55-62.

［8］Mironova E, Chen Y, Pao AC, et al. Activation of ENaC by AVP contributes to theurinary concentrating mechanism and dilution of plasma［J］. Am J Physiol Renal Physiol, 2015, 308(3):F237-243.

［9］Manaenko A, Fathali N, Khatibi NH, et al. Post-treatment with SR49059 improves outcomes following an intracerebral hemorrhagic stroke in mice［J］. Acta Neurochir Suppl, 2011, 111:191-196.

［10］Urwyler SA, Schuetz P, F1uri F, et al. Prognostic value of copeptin one year outcome in patients with acute stroke［J］. Stroke, 2010, 4l(7): 1564-1567.

［11］Morawiec B, Kawecki D. Copeptin: a new marker in cardiology［J］. J Cardiovasc Med (Hagerstown), 2013, 14(1):19-25.

［12］Yang DB, Yu WH, Dong XQ, et al. Plasma copeptin level predicts acute traumatic coagulopathy and progressive hemorrhagic injury after traumatic brain injury［J］. Peptides, 2014, 58:26-29.

［13］Levran O, Randesi M, Li Y, et al. Drug addiction and stress-response genetic variability: association study in African Americans ［J］. Ann Hum Genet, 2014, 78(4):290-298.

［14］Malik AI, Zai CC, Berall L, et al. The role of genetic variants in genes regulating the oxytocin-vasopressin neurohumoral system in childhood-onset aggression ［J］. Psychiatr Genet, 2014, 24(5):201-210.

［15］Wei LL，Meng ChP，Li X，et al. Association study on MRCl gene polymorphism with pulmonary tuberculosis in Chinese Han and Uygur populations ［J］. Acta Anatomica Sinica, 2012, 43(5):712-716. (in Chinese)

尉理梁, 孟春萍, 李翔, 等. 中国汉族和维吾尔族MRCl基因多态性与肺结核病的相关性［J］.解剖学报, 2012, 43(5):712-716.

［16］Ding L, Wang S, Chen GM, et al. A single nucleotide polymorphism of IL-21 gene is associated with systemic lupus erythematosus in a Chinese population ［J］. Inflammation, 2012, 35(6):1781-1785.

［17］Hughes T, Kim-Howard X, Kelly JA, et al. Fine-mapping and transethnic genotyping establish IL2/IL21 genetic association with lupus and localize this genetic effect to IL21［J］. Arthritis Rheum, 2011, 63(6):1689-1697.

［18］Pei LG, Qu L, Jia F, et al. LIN28B gene polymorphisms in Ningxia Hui and Han ethnic people ［J］. Acta Anatomica Sinica, 2014, 45(1)：128-133. (in Chinese)

裴利国, 屈蕾, 贾飞, 等. 宁夏回、汉族群体LIN28B基因多态性［J］. 解剖学报, 2014, 45(1): 128-133.

［19］Meng HT, Zhang YD, Shen CM, et al. Genetic polymorphism analyses of 30 InDels in Chinese Xibe ethnic group and its population genetic differentiations with other groups ［J］. Sci Rep, 2015, 5:8260.

［20］Ke JK, Yao YF, Liu ShY, et al. Association between diversity of hypoxia at different altitude and the polymorphism of EPAS1 gene ［J］. Chinese Journal of Medical Genetics，2011, 28(5):583-588.

柯金坤, 姚宇峰, 刘舒媛, 等. 不同海拔高度低氧环境差异对EPAS1基因多态性的影响［J］. 中华医学遗传学杂志，2011, 28(5):583-588.