中国藏族人群高原红细胞增多症与KDM5B、LAMB3基因多态性之间的关联（英文）  

Associations of high altitude polycythemia with polymorphisms in KDM5B and LAMB3 in Chinese Tibetan populations

作　　者：赵一多 张致英[1,2] 刘丽军[1,2] 张瑶[1,2] 马利锋[1,2] 李岩松[1,2] 蔡鹏[1,2] 康龙丽[1,2] ZHAO Yi-duo ZHANG Zhi-ying LIU Li-jun ZHANG Yao MA Li-feng LI Yan-song CAI Peng KANG Long-li(Key Laboratory for Molecular Genetic Mechanisms and Intervention Research on High Altitude Disease of Tibet Autonomous Region, School of Medicine, Xizang Minzu University, Xianyang 712082, Shaanxi, China Key Laboratory of High Altitude Environment and Gene Related to Disease of Tibet Ministry of Education, School of Medicine, Xianyang 712082, Shaanxi, China)

机构地区：[1]西藏民族大学高原相关疾病分子遗传机制与干预研究省级重点实验室,陕西咸阳712082 [2]高原环境与疾病相关基因研究高校重点实验室,陕西咸阳712082

出　　处：《中国高原医学与生物学杂志》2017年第1期3-9,共7页Journal of Chinese High Altitude Medicine & Biology

基　　金：supported by the National Natural Science Foundation of China(No.31460286;31660307;31260252;);the Natural Science Foundation of Xizang(Tibet) Autonomous Region(No.2015ZR-13-19;2016ZR);Innovation program of University Young Teacher,Tibet Autonomous Region(QC2016-29);the Social Science Foundation of the Chinese Ministry of Education(No.12YJA850011);the School Foundation of Xizang Minzu University(No.11myY20);Xizang Minzu University graduate practice and innovation project in 2016(No.2016MDYJS001)

摘　　要：目的中国藏族人群中高海拔红细胞增多症(HAPC)是一个严重的公共健康问题。其主要特点是红细胞过度增多(女性,血红蛋白≥190 g/L;男性,血红蛋白≥210 g/L)。虽然慢性缺氧是HAPC的主要原因,但是HAPC的分子机制目前还不清楚。本研究旨在探讨HAPC在中国藏族人群中的遗传基础。方法共招募70名藏族HAPC患者和30名健康受试者进行病例对照研究。方差分析主要用于评估HAPC遗传变异的多态性影响。结果使用卡方检验和遗传模型分析,KDM5B基因中的rs1141109位点,rs7528426位点和rs1141108位点,LAMB3基因中rs2072938位点和rs2072940位点在中国藏族人群中降低HAPC患病风险。结论我们的研究表明KDM5B和LAMB3的基因多态性与中国藏族人群的HAPC易感性显著相关。Objective High altitude polycythemia （HAPC） is a serious public health problem among Chinese Tibetan populations, which is characterized by excessive erythrocytosis （ females, hemoglobin ≥ 190g/L; males, hemo- globin≥210g/L） .Although chronic hypoxia is the main cause of HAPC ,the molecular mechanism of HAPC is not yet clear.This study aims to explore the genetic basis of HAPC in the Chinese Tibetan populations.Methods A total of 70 Tibetan patients with HAPC and 30 healthy Tibetan control subjects were recruited for a case-control associa-tion study.Analysis of variance was used to evaluate the impact of polymorphism on HAPC based on genetic varia- tion.Results Using the Chi-squared test and analyses of genetic models,rs1141109,rs7528426 and rs1141108 in KDMSB, rs2072938 and rs2072940 in IAMB3 showed a reduced risk of HAPC in Tibetan populations.Conclusions In summary, our study suggest that polymorphisms in the KDMSB and LAMB3 correlate with susceptibility to HAPC in Chinese Tibetan populations.

关 键 词：高原红细胞增多症 KDM5B LAMB3基因多态性 

分 类 号：R394[医药卫生—医学遗传学]