Nature Search

Stimulating Wnt signaling reveals context-dependent genetic effects on gene regulation in primary human neural progenitors

Matoba, Le, Valone et al. characterized context-dependent genetic effects on gene regulatory activity during Wnt stimulation, finding that genetic variant function during neurodevelopment patterning can lead to differences in adult brain traits.

Nana Matoba
Brandon D. Le
Jason L. Stein
Research30 Sept 2024
Nature Neuroscience

Volume: 27, P: 2430-2442
TSC tunes progenitor balance and upper-layer neuron generation in neocortex

The balance between radial progenitors and intermediate precursors to generate upper-layer neurons during the development and evolution of the cerebral cortex is mediated by members of the tuberous sclerosis complex.

Cristine R. Casingal
Naoki Nakagawa
E. S. Anton
Research03 Dec 2025
Nature

P: 1-11
GWAS of 165,084 Japanese individuals identified nine loci associated with dietary habits

Matoba et al. performed GWAS on 13 dietary habits in Japanese individuals, identifying ten new associations in eight traits and five dietary-trait-associated loci with pleiotropic effects on multiple human disease and clinical measurements.

Nana Matoba
Masato Akiyama
Yukinori Okada
Research20 Jan 2020
Nature Human Behaviour

Volume: 4, P: 308-316
Interethnic analyses of blood pressure loci in populations of East Asian and European descent

Blood pressure (BP) is a major risk factor for cardiovascular disease and more than 200 genetic loci associated with BP are known. Here, the authors perform discovery GWAS for BP in East Asians and meta-analysis in East Asians and Europeans and report ancestry-specific BP SNPs and selection signals.

Fumihiko Takeuchi
Masato Akiyama
Norihiro Kato
ResearchOpen Access28 Nov 2018
Nature Communications

Volume: 9, P: 1-16
GWAS of smoking behaviour in 165,436 Japanese people reveals seven new loci and shared genetic architecture

Matoba et al. examine genetic components of smoking behaviours in the Japanese population, identifying seven novel loci and 11 diseases that share genetic bases with smoking behaviours.

Nana Matoba
Masato Akiyama
Yoichiro Kamatani
Research25 Mar 2019
Nature Human Behaviour

Volume: 3, P: 471-477
Associations of autozygosity with a broad range of human phenotypes

Inbreeding depression has been observed in many different species, but in humans a systematic analysis has been difficult so far. Here, analysing more than 1.3 million individuals, the authors show that a genomic inbreeding coefficient (FROH) is associated with disadvantageous outcomes in 32 out of 100 traits tested.

David W Clark
Yukinori Okada
James F Wilson
ResearchOpen Access31 Oct 2019
Nature Communications

Volume: 10, P: 1-17
Multi-ancestry genome-wide gene–smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids

A multi-ancestry genome-wide gene–smoking interaction study identifies 13 new loci associated with serum lipids.

Amy R. Bentley
Yun J. Sung
L. Adrienne Cupples
Research29 Mar 2019
Nature Genetics

Volume: 51, P: 636-648
Systematic analysis of exonic germline and postzygotic de novo mutations in bipolar disorder

The significance of rare and de novo variants in bipolar disorder is not well understood. Here, the authors have analyzed whole exome/genome data from trios to identify deleterious de novo variants associated with bipolar disorder.

Masaki Nishioka
An-a Kazuno
Atsushi Takata
ResearchOpen Access18 Jun 2021
Nature Communications

Volume: 12, P: 1-15
Genetic diversity fuels gene discovery for tobacco and alcohol use

A multi-ancestry meta-regression study analyses diverse genome-wide association studies and genome loci associated with tobacco and alcohol use.

Gretchen R. B. Saunders
Xingyan Wang
Scott Vrieze
ResearchOpen Access07 Dec 2022
Nature

Volume: 612, P: 720-724
Large-scale GWAS of food liking reveals genetic determinants and genetic correlations with distinct neurophysiological traits

Genetic determinants of food consumption and food liking are likely to be distinct, although it has not been well studied. Here, the authors identify genetic variants associated with food-liking, finding that different food-liking traits correlate with different brain areas and other food consumption traits.

Sebastian May-Wilson
Nana Matoba
Nicola Pirastu
ResearchOpen Access18 May 2022
Nature Communications

Volume: 13, P: 1-13
Large-scale genome-wide association study in a Japanese population identifies novel susceptibility loci across different diseases

Genome-wide analysis in 212,453 Japanese individuals identifies loci associated with 42 diseases. Comparative analysis with European populations identifies East Asian–specific associations.

Kazuyoshi Ishigaki
Masato Akiyama
Yoichiro Kamatani
Research08 Jun 2020
Nature Genetics

Volume: 52, P: 669-679
Identifying missed prevention opportunities: maternal and congenital syphilis in hospital records and birth certificates in California from 2011 to 2021

Jessica Frankeberger
Nana Matoba
Christina Chambers
Research27 Oct 2025
Journal of Perinatology

P: 1-8
Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases

A genome-wide association study (GWAS) of 58 traits using data from the Biobank Japan Project identifies 1,407 loci, 679 of which are novel. Comparison with disease GWASs and analysis of genetic correlations and cell-type enrichment show that these clinical measurements are relevant to human disease.

Masahiro Kanai
Masato Akiyama
Yoichiro Kamatani
ResearchOpen Access05 Feb 2018
Nature Genetics

Volume: 50, P: 390-400
From base pair to brain

In new research, Smith et al. identify thousands of novel genetic associations with human brain structure and function, including those on the X chromosome, by analyzing ~4,000 MRI-derived traits measured in almost 40,000 individuals from the UK Biobank resource.

Nana Matoba
Jason L. Stein
News & Views19 Apr 2021
Nature Neuroscience

Volume: 24, P: 619-621
Aldosterone Nongenomically Produces NADPH Oxidase–Dependent Reactive Oxygen Species and Induces Myocyte Apoptosis

Hironori Hayashi
Miyuki Kobara
Hiroaki Matsubara
Research01 Feb 2008
Hypertension Research

Volume: 31, P: 363-375
Common variants contribute to intrinsic human brain functional networks

Association analyses using resting-state functional magnetic resonance images identify common genetic variants influencing intrinsic brain activity. Variation in brain function is genetically correlated with several neuropsychiatric traits.

Bingxin Zhao
Tengfei Li
Hongtu Zhu
Research07 Apr 2022
Nature Genetics

Volume: 54, P: 508-517
Trans-biobank analysis with 676,000 individuals elucidates the association of polygenic risk scores of complex traits with human lifespan

Cross-biobank analysis reveals that polygenic risk scores (PRS) for hypertension and obesity are associated with shorter lifespan, serving as a proof-of-principle that PRS could pinpoint causal risk factors that affect long-term health outcomes.

Saori Sakaue
Masahiro Kanai
Yukinori Okada
Research23 Mar 2020
Nature Medicine

Volume: 26, P: 542-548
Model-based assessment of replicability for genome-wide association meta-analysis

In genome-wide association meta-analysis, it is often difficult to find an independent dataset of sufficient size to replicate associations. Here, the authors have developed MAMBA to calculate the probability of replicability based on consistency between datasets within the meta-analysis.

Daniel McGuire
Yu Jiang
Dajiang J. Liu
ResearchOpen Access30 Mar 2021
Nature Communications

Volume: 12, P: 1-14
Association studies of up to 1.2 million individuals yield new insights into the genetic etiology of tobacco and alcohol use

Association studies of up to 1.2 million individuals identify 566 genetic variants in 406 loci associated with tobacco use and addiction (initiation, cessation, and heaviness) as well as alcohol use, with 150 loci showing pleiotropic association.

Mengzhen Liu
Yu Jiang
Scott Vrieze
Research14 Jan 2019
Nature Genetics

Volume: 51, P: 237-244
Risk factors for death during newborn and post-newborn hospitalizations among preterm infants

Nana Matoba
Soyang Kwon
Matthew M. Davis
Research21 Mar 2022
Journal of Perinatology

Volume: 42, P: 1288-1293
Population-specific reference panel improves imputation quality for genome-wide association studies conducted on the Japanese population

This study suggests that enhanced imputation quality in genome-wide association studies, using a Japanese population-specific reference panel, leads to the discovery of rare, trait-associated loci.

Jack Flanagan
Xiaoxi Liu
Chikashi Terao
ResearchOpen Access19 Dec 2024
Communications Biology

Volume: 7, P: 1-10
Birth outcomes of individuals who have experienced incarceration during pregnancy

Emma Rose Miller-Bedell
Lillian Sie
Henry C. Lee
ResearchOpen Access13 Nov 2024
Journal of Perinatology

Volume: 45, P: 600-606
Inter-center variation in autopsy practices among regional neonatal intensive care units (NICUs)

Ankur Datta
Jason Z. Niehaus
Jessica T. Fry
Research04 Jan 2022
Journal of Perinatology

Volume: 41, P: 2820-2825
Medical and surgical interventions and outcomes for infants with trisomy 18 (T18) or trisomy 13 (T13) at children’s hospitals neonatal intensive care units (NICUs)

Krishna Acharya
Steven R. Leuthner
Michel Mikhael
Research10 Jun 2021
Journal of Perinatology

Volume: 41, P: 1745-1754
Common genetic risk variants identified in the SPARK cohort support DDHD2 as a candidate risk gene for autism

Nana Matoba
Dan Liang
Jason L. Stein
ResearchOpen Access03 Aug 2020
Translational Psychiatry

Volume: 10, P: 1-14
Withdrawal of artificial nutrition and hydration: a survey of level IV neonatal intensive care units

Robin Saoud
Devika Locke
Cherrie Welch
Correspondence23 Mar 2021
Journal of Perinatology

Volume: 41, P: 2372-2374

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