Dataset Information

Genome-wide association study meta-analysis reveals transethnic replication of mean arterial and pulse pressure loci.

ABSTRACT: We conducted a genome-wide association study meta-analysis of mean arterial pressure and pulse pressure among 26,600 East Asian participants (stage 1) followed by replication study of up to 28,783 participants (stage 2). For novel loci, statistical significance was determined by a P<5.0×10(-8) in joint analysis of stage 1 and stage 2 data. For loci reported by the previous mean arterial and pulse pressure genome-wide association study meta-analysis in Europeans, evidence of transethnic replication was determined by consistency in effect direction and a Bonferroni-corrected P<1.4×10(-3). No novel loci were identified by the current study. Five independent mean arterial pressure variants demonstrated robust evidence for transethnic replication including rs17249754 at ATP2B1 (P=7.5×10(-15)), rs2681492 at ATP2B1 (P=3.4×10(-7)), rs11191593 at NT5C2 (1.1×10(-6)), rs3824755 at CYP17A1 (P=1.2×10(-6)), and rs13149993 at FGF5 (P=2.4×10(-4)). Two additional variants showed suggestive evidence of transethnic replication (consistency in effect direction and P<0.05), including rs319690 at MAP4 (P=0.014) and rs1173771 at NPR3 (P=0.018). For pulse pressure, robust evidence of replication was identified for 2 independent variants, including rs17249754 at ATP2B1 (P=1.2×10(-5)) and rs11191593 at NT5C2 (P=1.1×10(-3)), with suggestive evidence of replication among an additional 2 variants including rs3824755 at CYP17A1 (P=6.1×10(-3)) and rs2681492 at ATP2B1 (P=9.0×10(-3)). Replicated variants demonstrated consistency in effect sizes between East Asian and European samples, with effect size differences ranging from 0.03 to 0.24 mm?Hg for mean arterial pressure and from 0.03 to 0.21 mm?Hg for pulse pressure. In conclusion, we present the first evidence of transethnic replication of several mean arterial and pulse pressure loci in an East Asian population.

SUBMITTER: Kelly TN

PROVIDER: S-EPMC3972802 | biostudies-literature | 2013 Nov

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

Genome-wide association study meta-analysis reveals transethnic replication of mean arterial and pulse pressure loci.

Kelly Tanika N TN Takeuchi Fumihiko F Tabara Yasuharu Y Edwards Todd L TL Kim Young Jin YJ Chen Peng P Li Huaixing H Wu Ying Y Yang Chi-Fan CF Zhang Yonghong Y Gu Dongfeng D Katsuya Tomohiro T Ohkubo Takayoshi T Gao Yu-Tang YT Go Min Jin MJ Teo Yik Ying YY Lu Ling L Lee Nanette R NR Chang Li-Ching LC Peng Hao H Zhao Qi Q Nakashima Eitaro E Kita Yoshikuni Y Shu Xiao-Ou XO Kim Nam Hee NH Tai E Shyong ES Wang Yiqin Y Adair Linda S LS Chen Chien-Hsiun CH Zhang Shihiu S Li Changwei C Nabika Toru T Umemura Satoshi S Cai Qiuyin Q Cho Yoon Shin YS Wong Tien Yin TY Zhu Jingwen J Wu Jer-Yuarn JY Gao Xin X Hixson James E JE Cai Hui H Lee Juyoung J Cheng Ching-Yu CY Rao Dabeeru C DC Xiang Yong-Bing YB Cho Myeong-Chan MC Han Bok-Ghee BG Wang Aili A Tsai Fuu-Jen FJ Mohlke Karen K Lin Xu X Ikram Mohammad Kamran MK Lee Jong-Young JY Zheng Wei W Tetsuro Miki M Kato Norihiro N He Jiang J

Hypertension (Dallas, Tex. : 1979) 20130903 5

We conducted a genome-wide association study meta-analysis of mean arterial pressure and pulse pressure among 26,600 East Asian participants (stage 1) followed by replication study of up to 28,783 participants (stage 2). For novel loci, statistical significance was determined by a P<5.0×10(-8) in joint analysis of stage 1 and stage 2 data. For loci reported by the previous mean arterial and pulse pressure genome-wide association study meta-analysis in Europeans, evidence of transethnic replicati ...[more]

PMID: 24001895

Similar Datasets

Project description:OBJECTIVE:Assessment of local arterial properties has become increasingly important in cardiovascular research as well as in clinical domains. Vascular wall stiffness indices are related to local pulse pressure (?P) level, mechanical and geometrical characteristics of the arterial vessel. Non-invasive evaluation of local ?P from the central arteries (aorta and carotid) is not straightforward in a non-specialist clinical setting. In this work, we present a method and system for real-time and beat-by-beat evaluation of local ?P from superficial arteries-a non-invasive, cuffless and calibration-free technique. METHODS:The proposed technique uses a bi-modal arterial compliance probe which consisted of two identical magnetic plethysmograph (MPG) sensors located at 23 mm distance apart and a single-element ultrasound transducer. Simultaneously measured local pulse wave velocity (PWV) and arterial dimensions were used in a mathematical model for calibration-free evaluation of local ?P. The proposed approach was initially verified using an arterial flow phantom, with invasive pressure catheter as the reference device. The developed porotype device was validated on 22 normotensive human subjects (age = 24.5 ± 4 years). Two independent measurements of local ?P from the carotid artery were made during physically relaxed and post-exercise condition. RESULTS:Phantom-based verification study yielded a correlation coefficient (r) of 0.93 (p < 0.001) for estimated ?P versus reference brachial ?P, with a non-significant bias and standard deviation of error equal to 1.11 mmHg and ±1.97 mmHg respectively. The ability of the developed system to acquire high-fidelity waveforms (dual MPG signals and ultrasound echoes from proximal and distal arterial walls) from the carotid artery was demonstrated by the in-vivo validation study. The group average beat-to-beat variation in measured carotid local PWV, arterial diameter parameters-distension and end-diastolic diameter, and local ?P were 4.2%, 2.6%, 3.3%, and 10.2% respectively in physically relaxed condition. Consistent with the physiological phenomenon, local ?P measured from the carotid artery of young populations was, on an average, 22 mmHg lower than the reference ?P obtained from the brachial artery. Like the reference brachial blood pressure (BP) monitor, the developed prototype device reliably captured variations in carotid local ?P induced by an external intervention. CONCLUSION:This technique could provide a direct measurement of local PWV, arterial dimensions, and a calibration-free estimate of beat-by-beat local ?P. It can be potentially extended for calibration-free cuffless BP measurement and non-invasive characterization of central arteries with locally estimated biomechanical properties.

Dataset Information

Genome-wide association study meta-analysis reveals transethnic replication of mean arterial and pulse pressure loci.

Publications

Genome-wide association study meta-analysis reveals transethnic replication of mean arterial and pulse pressure loci.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure