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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。
Objectives High altitude polygatariosis (HAPC) among Tibetan populations in China is a serious public health problem. Its main feature is the excessive increase of red blood cells (women, hemoglobin ≥ 190 g / L; men, hemoglobin ≥ 210 g / L). Although chronic hypoxia is a major cause of HAPC, the molecular mechanism of HAPC is unclear. This study aimed to investigate the genetic basis of HAPC in Chinese Tibetan population. Methods A total of 70 Tibetan HAPC patients and 30 healthy subjects were enrolled in the case-control study. Analysis of variance was mainly used to assess the genetic variation of HAPC polymorphism. Results Using chi-square test and genetic model analysis, rs1141109, rs7528426 and rs1141108 in KDM5B and rs2072938 and rs2072940 in LAMB3 decreased the risk of HAPC in Chinese Tibetan population. Conclusions Our results indicate that the genetic polymorphisms of KDM5B and LAMB3 are significantly associated with HAPC susceptibility in Chinese Tibetan populations.