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Peer-reviewedCC BYEuropean Heart Journal

Genetic determinants of childhood blood pressure and heart rate in relation to adult health outcomes: the consortium of childhood blood pressure

77 more authors

60 listed; 89 in total.

Abstract

BACKGROUND AND AIMS: To elucidate the genetic architecture of blood pressure (BP) and heart rate (HR) during early life and assess their potential relevance to adult health outcomes. METHODS: The largest genome-wide association study (GWAS) meta-analyses to date of childhood systolic BP, diastolic BP, pulse pressure, and mean arterial pressure (n = 28 425) and HR (n = 22 565) were conducted in children of European ancestry aged 4-17 years. Follow-up analyses included comparisons with adult GWAS results, polygenic risk score (PRS) analyses in independent cohorts of diverse ancestries, and a phenome-wide association study in the UK Biobank. RESULTS: Eight genome-wide significant loci were identified for childhood BP (KIAA2013, CACNB2, PLCE1, PAX2, COL4A2, RP11-236L14.1, CFDP1, TPX2) and three loci for childhood HR (CCDC141, ACHE, MYH6); all novel in children but previously reported in adults. Childhood PRSs explained up to 1.6% of BP variance and 5.2% of HR variance among children of European ancestry. Genetic correlations between childhood and adulthood BP traits were moderate (rg = 0.4-0.7), suggesting age-specific genetic effects on BP. In the UK Biobank, higher childhood BP PRS levels were significantly associated with a broad range of adult health outcomes, particularly cardiometabolic outcomes such as hypertension, angina, myocardial infarction, and cardiovascular disease-related mortality. CONCLUSIONS: These findings advance the understanding of the genetic architecture of childhood BP and HR and provide compelling genetic evidence linking childhood BP to a broad spectrum of adult health outcomes-particularly cardiometabolic conditions-which may inform targeted prevention strategies from a young age.

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BibTeX
@article{xie2026genetic,
  title = {{Genetic determinants of childhood blood pressure and heart rate in relation to adult health outcomes: the consortium of childhood blood pressure}},
  author = {Tian Xie and Alireza Ani and Ahmad Vaez and Ilja Nolte and Shaoyong Su and Mami Ishikuro and Siqi Wang and Wenbo Zhang and Ana Goncalves Soares and Ehsan Motazedi and Lucinda Calas and Justiina Ronkainen and Casper-Emil Pedersen and Xueling Lu and Sara Stinson and Janine Felix and Evelina Stankevic and Carol Wang and Elisabeth Thiering and Dietmar Fernández and Beatriz Calvo-Serra and Maria Stathopoulou and Ruby Fore and Ashish Kumar and Johanna Tuhkanen and Jose Ramon Bilbao and Jesus Ibarluzea and Aaron Isaacs and Cilius Esmann Fonvig and Fernando Rivadeneira and Morten Asp Vonsild Lund and Louise Aas Holm and Peter van der Most and Harriëtte Riese and Akira Narita and Gen Tamiya and Claudia Flexeder and Rikstje Wiersma and Anna Argoty-Pantoja and Rebecca Vinding and Tine Willum Hansen and Thomas Kümler and Marisa Estarlich and Mariona Bustamante and Wen Lun Yuan and Anne Boland-Augé and Jean-François Deleuze and Alexandros Petrelis and Sheryl Rifas-Shiman and Eero Kajantie and Nora Fernandez-Jimenez and Loreto Santa-Marina and Ilja Arts and Jari Lahti and Timo Strandberg and Inger Kull and Anna Bergström and Marie-France Hivert and Klaus Bønnelykke and Shinichi Kuriyama},
  journal = {European Heart Journal},
  year = {2026},
  month = sep,
  doi = {10.1093/eurheartj/ehag313},
  url = {https://hal.science/hal-05761103v1},
  note = {CC BY},
}
RIS
TY  - JOUR
TI  - Genetic determinants of childhood blood pressure and heart rate in relation to adult health outcomes: the consortium of childhood blood pressure
AU  - Tian Xie
AU  - Alireza Ani
AU  - Ahmad Vaez
AU  - Ilja Nolte
AU  - Shaoyong Su
AU  - Mami Ishikuro
AU  - Siqi Wang
AU  - Wenbo Zhang
AU  - Ana Goncalves Soares
AU  - Ehsan Motazedi
AU  - Lucinda Calas
AU  - Justiina Ronkainen
AU  - Casper-Emil Pedersen
AU  - Xueling Lu
AU  - Sara Stinson
AU  - Janine Felix
AU  - Evelina Stankevic
AU  - Carol Wang
AU  - Elisabeth Thiering
AU  - Dietmar Fernández
AU  - Beatriz Calvo-Serra
AU  - Maria Stathopoulou
AU  - Ruby Fore
AU  - Ashish Kumar
AU  - Johanna Tuhkanen
AU  - Jose Ramon Bilbao
AU  - Jesus Ibarluzea
AU  - Aaron Isaacs
AU  - Cilius Esmann Fonvig
AU  - Fernando Rivadeneira
AU  - Morten Asp Vonsild Lund
AU  - Louise Aas Holm
AU  - Peter van der Most
AU  - Harriëtte Riese
AU  - Akira Narita
AU  - Gen Tamiya
AU  - Claudia Flexeder
AU  - Rikstje Wiersma
AU  - Anna Argoty-Pantoja
AU  - Rebecca Vinding
AU  - Tine Willum Hansen
AU  - Thomas Kümler
AU  - Marisa Estarlich
AU  - Mariona Bustamante
AU  - Wen Lun Yuan
AU  - Anne Boland-Augé
AU  - Jean-François Deleuze
AU  - Alexandros Petrelis
AU  - Sheryl Rifas-Shiman
AU  - Eero Kajantie
AU  - Nora Fernandez-Jimenez
AU  - Loreto Santa-Marina
AU  - Ilja Arts
AU  - Jari Lahti
AU  - Timo Strandberg
AU  - Inger Kull
AU  - Anna Bergström
AU  - Marie-France Hivert
AU  - Klaus Bønnelykke
AU  - Shinichi Kuriyama
PY  - 2026
DA  - 2026/09/01
JO  - European Heart Journal
DO  - 10.1093/eurheartj/ehag313
UR  - https://hal.science/hal-05761103v1
AB  - BACKGROUND AND AIMS: To elucidate the genetic architecture of blood pressure (BP) and heart rate (HR) during early life and assess their potential relevance to adult health outcomes. METHODS: The largest genome-wide association study (GWAS) meta-analyses to date of childhood systolic BP, diastolic BP, pulse pressure, and mean arterial pressure (n = 28 425) and HR (n = 22 565) were conducted in children of European ancestry aged 4-17 years. Follow-up analyses included comparisons with adult GWAS results, polygenic risk score (PRS) analyses in independent cohorts of diverse ancestries, and a phenome-wide association study in the UK Biobank. RESULTS: Eight genome-wide significant loci were identified for childhood BP (KIAA2013, CACNB2, PLCE1, PAX2, COL4A2, RP11-236L14.1, CFDP1, TPX2) and three loci for childhood HR (CCDC141, ACHE, MYH6); all novel in children but previously reported in adults. Childhood PRSs explained up to 1.6% of BP variance and 5.2% of HR variance among children of European ancestry. Genetic correlations between childhood and adulthood BP traits were moderate (rg = 0.4-0.7), suggesting age-specific genetic effects on BP. In the UK Biobank, higher childhood BP PRS levels were significantly associated with a broad range of adult health outcomes, particularly cardiometabolic outcomes such as hypertension, angina, myocardial infarction, and cardiovascular disease-related mortality. CONCLUSIONS: These findings advance the understanding of the genetic architecture of childhood BP and HR and provide compelling genetic evidence linking childhood BP to a broad spectrum of adult health outcomes-particularly cardiometabolic conditions-which may inform targeted prevention strategies from a young age.
SN  - 0195-668X
SN  - 1522-9645
ER  -