Abstract
BACKGROUND: Blood pressure (BP) is an independent and important factor for chronic diseases such as cardiovascular diseases and diabetes. METHODS: We firstly conducted twin modeling analyses to explore the heritability of BP, including systolic blood pressure (SBP), diastolic blood pressure (DBP), pulse pressure (PP) and mean arterial pressure (MAP), and then performed genome-wide association studies to explore the associated genomic loci, genes, and pathways. RESULTS: A total of 380 Chinese twin pairs were included. The AE model containing additive genetic parameter (A) and unique/non-shared environmental parameter (E) was the best fit model, with A accounting for 53.7%, 50.1%, 48.1%, and 53.3% for SBP, DBP, PP and MAP, respectively. No SNP was found to reach the genome-wide significance level (p < 5 × 10(-8) ), however, three, four, 14 and nine SNPs were found to exceed suggestive significance level (p < 1 × 10(-5) ) for SBP, DBP, PP, and MAP, respectively. And after imputation, 46, 37, 91 and 61 SNPs were found to exceed the suggestive significance level for SBP, DBP, PP, and MAP, respectively. In gene-based analysis, 53 common genes were found among SBP, DBP, PP, and MAP. In pathway enrichment analysis, 672, 706, 701, and 596 biological pathways were associated with SBP, DBP, PP, and MAP, respectively (p < 0.05). CONCLUSION: Our study suggests that BP is moderately heritable in the Chinese population and could be mediated by a series of genomic loci, genes, and pathways. Future larger-scale studies are needed to confirm our findings.