Association between CYP2C19 gene polymorphisms and susceptibility to high-altitude pulmonary edema
Association between CYP2C19 gene polymorphisms and susceptibility to high-altitude pulmonary edema
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CYP2C19基因多态性与高原肺水肿易感性的关系
DOI：
10.1111/crj.13232
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发表时间：
2020
影响因子：
1.7
通讯作者：
Wang Li
中科院分区：
文献类型：
--
作者：
He Xue;Bai Mei;Guan Xiwen;Zheng Jianwen;He Yongjun;Yuan Dongya;Jin Tianbo;Wang Li
前言高原肺水肿（HAPE）是由遗传和环境危险因素共同作用引起的。我们的目的是探讨是否有三个单核苷酸多态性（SNPs）inCYP 2C 19基因影响中国汉族人群HAPE易感性。方法我们于2018年1月至2018年10月在西藏民族附属医院招募了238例患者和230例对照大学用关联分析方法研究CYP 2C 19基因多态性与高原肺水肿的关系。采用Mass MassARRAY平台进行基因分型，采用卡方检验、独立样本检验、遗传模型分析和单倍型分析进行统计学分析。结果在对数加和模型中，CYP 2C 19基因rs 4494250与年龄>32岁时HAPE的风险增加相关（OR = 1.80，95%CI = 1.05 - 3.09，P = 0.033）。此外，在主导模型中，观察到其与年龄≤2岁时HAPE风险降低相关（A/G-A/A vs G/G，OR = 0.55，95% CI = 0.31 - 0.97，P = 0.038）和对数相加模型中（OR = 0.58，95%CI = 0.35 - 0.96，P = 0.033）结论CYP 2C 19基因变异与中国汉族人群HAPE的发生有关。
IntroductionHigh‐altitude pulmonary edema (HAPE) is caused by the interaction of both genetic and environmental risk factors.ObjectivesIn this study, we aimed to explore whether three single nucleotide polymorphisms (SNPs) inCYP2C19gene influenced the HAPE susceptibility in the Chinese Han population.MethodsWe recruited 238 cases and 230 controls between January 2018 and October 2018 from the Affiliated Hospital of Xizang Minzu University. The relationship betweenCYP2C19gene polymorphisms and HAPE was studied by association analysis. Genotyping was performed using the Agena MassARRAY platform and the statistical analysis was performed using Chi‐squared test, independent samplettest, genetic model analysis and haplotype analysis.ResultsThe main finding of our study showed that rs4494250 inCYP2C19gene was associated with an increased risk of HAPE at age >32 years in the log‐additive model (OR = 1.80, 95% CI = 1.05‐3.09,P= 0.033). Also, it was observed to be associated with a reduced risk of HAPE at age ≤2 years in the dominant model (A/G‐A/A vs G/G, OR = 0.55, 95% CI = 0.31‐0.97,P= 0.038) and in the log‐additive model (OR = 0.58, 95% CI = 0.35‐0.96,P= 0.033).ConclusionOur findings demonstrated thatCYP2C19genetic variants were associated with risk of developing HAPE in Han Chinese population.