Association Analysis Between Several SNPs And Hypertension In A Chinese Population

Hypertension has become a major problem in the public health field around the world. For nearly 10 years, research on hypertension has been focused deeply onto the molecular level, especially the genetic mechanisms. Genome-wide association studies(GWAS) on hypertension has made significant breakthrough with more than 10 articles published, and dozens of loci significantly associated with hypertension have been found. Since a large number of GWAS about hypertension were published, many C hinese scientists have started to perform subsequent validation work in the C hinese population in order to find susceptibility genes associated with hypertension in the Chinese population. This thesis project is one of this type of studies. We have selected three genes having significant association with hypertension from European ancestry populations and assessed whether their significant association with hypertension can be replicated in the C hinese population. The SNPs selected from these genes include rs6842486 in ENPEP, rs12258052 in PLCE1, and rs4867453 in SUB1. We conducted a case–control association analysis using 960 hypertension patients and 960 normal controls. We found no significant association between SNP rs6842486 and hypertension in the C hinese population( P=0.383,OR=1.061). No significant association was identified between SNP rs12258052 and hypertension in the Chinese population(P=0.747,OR=1.022). However, a highly significant allelic associatio n was detected between rs4867453 and hypertension in the Chinese population(P=0.003,OR=1.216). Analysis for genotypic association suggested that rs4867453 probably conferred susceptibility to hypertension in a recessive model. After the adjustment of covariates, the association between rs4867453 and hypertension remained significant.This study has identified significant association between rs4867453 and hypertension in a representative mainland Chinese population for the first time. Because rs4867453 is located in the SU B1 gene, SUB1 may be a potential gene associated with hypertension. Our finding may be relevant to the clinical diagnosis, prevention and treatment of hypertension, and future studies will be focused on functional research to identify potential mechanisms for the role of SUB1 in the pathogenesis of hypertension.