Apolipoprotein E (APOE) genotype-associated disease risks: a phenome-wide, registry-based, case-control study utilising the UK Biobank
Apolipoprotein E (APOE) genotype-associated disease risks: a phenome-wide, registry-based, case-control study utilising the UK Biobank
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DOI：
10.1016/j.ebiom.2020.102954
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发表时间：
2020-09-01
期刊：
影响因子：
11.1
通讯作者：
Hypponen, Elina
中科院分区：
文献类型：
--
作者：
Lumsden, Amanda L.;Mulugeta, Anwar;Hypponen, Elina
背景资料：APOE基因的三个主要等位基因（APOE 4、APOE 3和APOE 2）对包括阿尔茨海默病（AD）和心血管疾病在内的疾病具有不同的风险。由于其临床意义，我们探讨了疾病协会的APOE基因型使用一个假设自由，数据驱动，全表型关联研究（PheWAS）approach.Methods：我们使用的数据从英国生物银行筛选APOE基因型和超过950种疾病之间的关联结果基因型8383作为参考。数据仅限于337，484名白色英国参与者（年龄37-73岁）。结果：经过多次测试校正后，PheWAS分析确定了与37种结果的关联，代表18种不同的疾病。正如预期的那样，AD的发生率与基因型133 - 144和134 - 144相关（p
Background: The three main alleles of the APOE gene (epsilon 4, epsilon 3 and epsilon 2) carry differential risks for conditions including Alzheimer's disease (AD) and cardiovascular disease. Due to their clinical significance, we explored disease associations of the APOE genotypes using a hypothesis-free, data-driven, phenome-wide association study (PheWAS) approach.Methods: We used data from the UK Biobank to screen for associations between APOE genotypes and over 950 disease outcomes using genotype 8383 as a reference. Data was restricted to 337,484 white British participants (aged 37-73 years).Findings: After correction for multiple testing, PheWAS analyses identified associations with 37 outcomes, representing 18 distinct diseases. As expected, epsilon 3 epsilon 4 and epsilon 4 epsilon 4 genotypes associated with increased odds of AD (p