Essential Hypertension In Chinese Han Population And Linkage Analysis Of Chromosome 14 Associated With The Apob Gene, Klk1 Gene Research

Background: One of the important tasks of hypertension research is the elucidation of the genetic basis of hypertension as a means to identify the genes involved, determine their respective role in causing high blood pressure, and establish how they interact with one another and with non-genetic factors to result in the hypertensive phenotype. This search should untimately lead to a better understanding of the pathophsiological mechanisms underlying hypertension. Linkage and association studies are complementary methods, together, provide the means to probe the genome and describe the genetic etiology of essential hypertension. The goal of linkage studies is to determine whether the two loci tend to cosegregate more often than they should if they were not physically close together on the same chromosome. The assumption is that the genetic marker is linked to the gene causing the specific phenotype. There are now many publications describing the results of genome-wide screens for genes controlling blood pressure. Some studies have linked human chromosome 14 with suggestive evidence of linkage to essential hypertension or blood pressure traits. With a Chinese population, we tried to replicate these findings.Genetic association studies are central efforts to identify and characterize genomic variants underlying susceptibility to multifactorial disease. Among candidate genes thus investigated to data, apolipoprotein B (APOB) and tussue kallikreinl (KLK1) genes have drawn substantial attention. Apo B is the sole component of the low-density lipoprotein (LDL) particles and is thought to play an important role in the homeostasis of LDL cholesterol in plasma. Recent studies suggested the apolipoprotein B (APOB) gene played a role in determining susceptibility to essential hypertension. KLK1 gene codes the human tissue kallikreinl (hKl) which is the major kinin-forming enzyme in the kidney. The main biological function of hKl is to process kininogen substrates and release vasoactive kinin peptides. KLK1 gene had been implicated to be associated with blood pressure regulation through animal model and population research. Based on the data of CHB in the international HapMap Project, we investigated the association of KLK1 gene common polymorphisms with essential hypertension in Chinese Han population by tagging single nucleotide polymorphisms (tSNPs) strategy.Methods (linkage analysis): We recruited 147 randomly ascertained families that containning 799 individuals. To be eligible for our study, the subjects had to meet the...