Measurement of absolute copy number variation reveals association with essential hypertension

被引:20
作者
Marques, Francine Z. [1 ]
Prestes, Priscilla R. [1 ]
Pinheiro, Leonardo B. [2 ]
Scurrah, Katrina [3 ]
Emslie, Kerry R. [2 ]
Tomaszewski, Maciej [4 ]
Harrap, Stephen B. [3 ]
Charchar, Fadi J. [1 ]
机构
[1] Federat Univ Australia, Fac Sci, Ballarat, Vic 3350, Australia
[2] Natl Measurement Inst, Sydney, NSW, Australia
[3] Univ Melbourne, Dept Physiol, Melbourne, Vic, Australia
[4] Univ Leicester, Dept Cardiovasc Sci, Leicester, Leics, England
基金
英国医学研究理事会; 澳大利亚国家健康与医学研究理事会;
关键词
Copy number variation; Blood pressure; Hypertension; Extreme phenotypes; Droplet digital PCR; CARDIOVASCULAR RISK-FACTORS; FACTOR GENE LOCUS; BLOOD-PRESSURE; DIGITAL PCR; STRUCTURAL VARIATION; MESSENGER-RNA; QUANTITATION; EXPRESSION; VARIANTS; POWER;
D O I
10.1186/1755-8794-7-44
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Background: The role of copy number variation (CNV) has been poorly explored in essential hypertension in part due to technical difficulties in accurately assessing absolute numbers of DNA copies. Droplet digital PCR (ddPCR) provides a powerful new approach to CNV quantitation. The aim of our study was to investigate whether CNVs located in regions previously associated with blood pressure (BP) variation in genome-wide association studies (GWAS) were associated with essential hypertension by the use of ddPCR. Methods: Using a "power of extreme" approach, we quantified nucleic acids using ddPCR in white subjects from the Victorian Family Heart Study with extremely high (n = 96) and low (n = 92) SBP, providing power equivalent to 1714 subjects selected at random. Results: A deletion of the CNVs esv27061 and esv2757747 on chromosome 1p13.2 was significantly more prevalent in extreme high BP subjects after adjustment for age, body mass index and sex (12.6% vs. 2.2%; P = 0.013). Conclusions: Our data suggests that CNVs within regions identified in previous GWAS may play a role in human essential hypertension.
引用
收藏
页数:8
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