EGLN1基因多态性位点rs479200、rs2790870与高原肺水肿的关系  

The relationship between the rs479200,rs2790870 polymorphisms of EGLN1 and high-altitude pulmonary edema in the Han Chinese

作　　者：陈芃[1] 李永平[1] 王亚平[1] 杨应忠[1] 

机构地区：[1]青海大学医学院,青海西宁810001

出　　处：《新疆医科大学学报》2015年第2期161-165,共5页Journal of Xinjiang Medical University

基　　金：国家自然科学基金(31160232)

摘　　要：目的探讨EGLN1基因多态性位点rs479200、rs2790870与高原肺水肿(High-altitude pulmonary edema,HAPE)的关系。方法采用病例对照研究,选取HAPE患者128例(HAPE组)及性别、年龄等相匹配的127例为对照组。采用PCR-测序法检测EGLN1基因的rs479200、rs2790870单核苷酸位点的多态性。结果HAPE组和对照组间rs479200和rs2790870位点的C等位基因频率分别为42.2%、42.5%和52.3%、58.3%,T等位基因频率分别为57.8%、57.5%和47.7%、41.7%,两组C、T等位基因频率分布差异无统计学意义(P>0.05);HAPE组和对照组间rs479200位点TT、TC和CC基因型频率分别为35.2%、45.3%、19.5%和36.2%、42.5%、21.3%,两组比较差异无统计学意义(P>0.05)。HAPE组和对照组间rs2790870位点TT、TC和CC基因型频率分别为24.2%、46.9%、28.9%和21.3%、40.9%、37.8%,两组比较差异无统计学意义(P>0.05)。结论 EGLN1基因多态性位点rs479200、rs2790870的基因型及等位基因频率无差异,提示在本研究中与HAPE的发病无关。Objective To investigate the relationships between the EGLN1 gene and the susceptibility to high altitude pulmonary edema （HAPE）in Han Chinese.Methods The rs479200,rs2790870 polymor-phisms of EGLN1 were genotyped in 128 HAPE patients and 127 Health Controls.Results The C allele frequencies of rs479200 and rs2790870 polymorphisms were 42.2%,42.5% and 52.3%,58.3% in HAPE and Control groups;and the T allele frequencies of rs479200 and rs2790870 polymorphisms were 57.8%、57.5% and 47.7%、41.7% in HAPE and Control groups.The TT,TC and CC genotype of rs479200 in HAPE and Control groups were 35.2%,45.3%,19.5% and 36.2%,42.5%,21.3%;and The TT,TC and CC genotype of rs2790870 in HAPE and Control groups were 24.2%,46.9%,28.9% and 21.3%,40.9%, 37.8%.There was no significant difference of the genotypic and the allelic frequencies in those polymor-phisms between the HAPE and the control groups （P 〉0.05）.Conclusion The rs479200,rs2790870 pol-ymorphisms of EGLN1 may not associate with the susceptibility to HAPE in current Han-Chinese case-control study.

关 键 词：高原肺水肿 EGLN1基因 单核苷酸多态性 

分 类 号：R394.5[医药卫生—医学遗传学]