Huang Sihui, Wang Jie, Liu Nannan, Li Ping, Wu Sha, Qi Luming, Xia Lina
College of Health and Rehabilitation, Chengdu University of Traditional Chinese Medicine, Chengdu, China.
Key Laboratory of Traditional Chinese Medicine Regimen and Health Industry Development, State Administration of TCM, Chengdu, China.
Front Genet. 2023 Feb 10;14:1114174. doi: 10.3389/fgene.2023.1114174. eCollection 2023.
Genome-wide association study (GWAS) have identified over 1,000 loci associated with blood pressure. However, these loci only explain 6% of heritability. Transcriptome-wide association studies (TWAS) combine GWAS summary data with expression quantitative trait loci (eQTL) to provide a better approach to finding genes associated with complex traits. GWAS summary data (N = 450,584) for essential hypertension originating from European samples were subjected to Post-GWAS analysis using FUMA software and then combined with eQTL data from Genotype-Tissues Expression Project (GTEx) v8 for TWAS analysis using UTMOST, FUSION software, and then validated the results with SMR. FUMA identified 346 significant genes associated with hypertension, FUSION identified 461, and UTMOST cross-tissue analysis identified 34, of which 5 were common. SMR validation identified 3 key genes: , and . In previous GWAS studies on blood pressure regulation, the association of and with hypertension has been established, and the association between and blood pressure regulation still needs further validation.
全基因组关联研究（GWAS）已经确定了1000多个与血压相关的基因座。然而，这些基因座仅解释了6%的遗传力。转录组全关联研究（TWAS）将GWAS汇总数据与表达数量性状基因座（eQTL）相结合，为寻找与复杂性状相关的基因提供了一种更好的方法。使用FUMA软件对源自欧洲样本的原发性高血压的GWAS汇总数据（N = 450,584）进行GWAS后分析，然后与来自基因型-组织表达项目（GTEx）v8的eQTL数据相结合，使用UTMOST、FUSION软件进行TWAS分析，然后用SMR验证结果。FUMA鉴定出346个与高血压相关的显著基因，FUSION鉴定出461个，UTMOST跨组织分析鉴定出34个，其中5个是共同的。SMR验证确定了3个关键基因： 、 和 。在先前关于血压调节的GWAS研究中， 与高血压的关联已经确立， 与血压调节之间的关联仍需进一步验证。
