CAJ | 학술논문

目的：探讨 EGLN1基因多态性位点 rs479200、rs2790870与高原肺水肿（High-altitude pulmonary e-dema，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。
목적：탐토 EGLN1기인다태성위점 rs479200、rs2790870여고원폐수종（High-altitude pulmonary e-dema，HAPE）적관계。방법채용병례대조연구，선취 HAPE 환자128례（HAPE 조）급성별、년령등상필배적127례위대조조。채용 PCR-측서법검측 EGLN1기인적 rs479200、rs2790870단핵감산위점적다태성。결과HAPE 조화대조조간 rs479200화 rs2790870위점적 C 등위기인빈솔분별위42．2％、42．5％화52．3％、58．3％，T 등위기인빈솔분별위57．8％、57．5％화47．7％、41．7％，량조 C、T 등위기인빈솔분포차이무통계학의의（P ＞0．05）；HAPE 조화대조조간 rs479200위점 TT、TC 화 CC 기인형빈솔분별위35．2％、45．3％、19．5％화36．2％、42．5％、21．3％，량조비교차이무통계학의의（P ＞0．05）。HAPE 조화대조조간 rs2790870위점 TT、TC 화 CC 기인형빈솔분별위24．2％、46．9％、28．9％화21．3％、40．9％、37．8％，량조비교차이무통계학의의（P ＞0．05）。결론EGLN1기인다태성위점 rs479200、rs2790870적기인형급등위기인빈솔무차이，제시재본연구중여 HAPE 적발병무관。
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.