原创力文档associations between genetic variations in the furin gene and hypertensionfurin基因的遗传变异和高血压之间的联系.pdfVIP
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associations between genetic variations in the furin gene and hypertensionfurin基因的遗传变异和高血压之间的联系
Li et al. BMC Medical Genetics 2010, 11:124
/1471-2350/11/124
RESEARCH ARTICLE Open Access
Associations between genetic variations in the
FURIN gene and hypertension
*
Nanfang Li , Wenli Luo, Zhang Juhong, Jin Yang, Hongmei Wang, Ling Zhou, Jianhang Chang
Abstract
Background: Hypertension is a complex disease influenced by multiple genetic and environmental factors. The
Kazakh ethnic group is characterized by a relatively high prevalence of hypertension. Previous research indicates
that the FURIN gene may play a pivotal role in the renin-angiotensin system and maintaining the sodium-
electrolyte balance. Because these systems influence blood pressure regulation, we considered FURIN as a
candidate gene for hypertension. The purpose of this study was to systematically investigate the association
between genetic variations in the FURIN gene and essential hypertension in a Xinjiang Kazakh population.
Methods: We sequenced all exons and the promoter regions of the FURIN gene in 94 hypertensive individuals to
identify genetic variations associated with the disorder. Genotyping was performed using the TaqMan polymerase
chain reaction method for four representative common single nucleotide polymorphisms (SNPs, -7315C T, 1970C
G, 5604C G, 6262C T) in 934 Kazakh Chinese people. One SNP (1970C G) was replicated in 1,219 Uygur
Chinese people.
Results: Nine novel and seven known single nucleotide polymorphisms were identified in the FURIN gene. The
results suggest that 1970C G was associated with a hypertension phenotype in Kazakh Chinese (additive model,
P = 0.091; dominant model, P = 0.031, allele model, P = 0.030), and after adjustment with logistic regression
analysis, ORs were 1.451 (95%CI 1.106-1.905, P = 0.008) and 1.496 (95% 1.103-2.028, P = 0.01) in additive and
dominant models, respectively.
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