Associations of Genome-Wide Polygenic Risk Score and Risk Factors with Hypertension in a Japanese Population

Ryosuke Fujii, Asahi Hishida, Masahiro Nakatochi, Yoshiki Tsuboi, Koji Suzuki, Takaaki Kondo, Hiroaki Ikezaki, Megumi Hara, Rieko Okada, Takashi Tamura, Ippei Shimoshikiryo, Sadao Suzuki, Teruhide Koyama, Kiyonori Kuriki, Naoyuki Takashima, Kokichi Arisawa, Yukihide Momozawa, Michiaki Kubo, Kenji Takeuchi, Kenji Wakai

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4 Citations (Scopus)


Background: Although many polygenic risk scores (PRS) for cardiovascular traits have been developed in European populations, it is an urgent task to construct a PRS and to evaluate its ability in non-European populations. We developed a genome-wide PRS for blood pressure in a Japanese population and examined the associations between this PRS and hypertension prevalence. Methods: We performed a cross-sectional study in 11 252 Japanese individuals who participated in the J-MICC (Japan Multi-Institutional Collaborative Cohort) study. Using publicly available GWAS summary statistics from Biobank Japan, we developed the PRS in the target data (n=7876). With >30 000 single nucleotide polymorphisms, we evaluated PRS performance in the test data (n=3376). Hypertension was defined as systolic blood pressure of 130 mm Hg or more, or diastolic blood pressure of 85 mm Hg or more, or taking an antihypertensive drug. Results: Compared with the middle PRS quintile, the prevalence of hypertension at the top PRS quintile was higher independently from traditional risk factors (odds ratio, 1.73 [95% CI, 1.32-2.27]). The difference of mean systolic blood pressure and diastolic blood pressure between the middle and the top PRS quintile was 4.55 (95% CI, 2.26-6.85) and 2.32 (95% CI, 0.86-3.78) mm Hg, respectively. Subgroups reflecting combinations of Japanese PRS and modifiable lifestyles and factors (smoking, alcohol intake, sedentary time, and obesity) were associated with the prevalence of hypertension. A European-derived PRS was not associated with hypertension in our participants. Conclusions: A PRS for blood pressure was significantly associated with hypertension and BP traits in a general Japanese population. Our findings also highlighted the importance of a combination of PRS and risk factors for identifying high-risk subgroups.

Original languageEnglish
Pages (from-to)E003612
JournalCirculation. Genomic and precision medicine
Issue number4
Publication statusPublished - Aug 1 2022
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • Genetics
  • Cardiology and Cardiovascular Medicine
  • Genetics(clinical)


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