Evidence map›Paper›PMID 39362218›Full record

ArticleAmerican journal of human genetics2024

Cross-ancestry analysis of brain QTLs enhances interpretation of schizophrenia genome-wide association studies.

Yu Chen, Sihan Liu, Zongyao Ren, Feiran Wang, Qiuman Liang, Yi Jiang, Rujia Dai, Fangyuan Duan, Cong Han, Zhilin Ning and 18 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in American journal of human genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.

0numbers the graph read from it
0cells of the map it votes in
13citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

13 citing papers in PubMed.

  1. Allele-specific expression in the brain links genetic risk and cortical thinning in psychiatric disorders.Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology · 2026
    Article
  2. Review
  3. Novel immune-related susceptibility loci associated with pediatric steroid-sensitive nephrotic syndrome identified by a transethnic genome-wide association study.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2026
    Article
  4. Article
  5. Stratification by a polygenic risk score of common variation aids in Alzheimer's disease rare variant discovery.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2026
    Observational
  6. Article
  7. Article
  8. Analyses of plasma multi-omic data across ancestries identify novel pathways implicated in Alzheimer's disease.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2026
    Article
  9. Review
  10. Article
  11. Article
  12. Article
  13. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

28 authors.

Yu ChenMOE Key Laboratory of Rare Pediatric Diseases & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, and Department of Psychiatry, The Second Xiangya Hospital, Central South University, Changsha, Hunan 410000, China; Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Sihan LiuMOE Key Laboratory of Rare Pediatric Diseases & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, and Department of Psychiatry, The Second Xiangya Hospital, Central South University, Changsha, Hunan 410000, China; Institute of Rare Diseases, West China Hospital, Sichuan University, Chengdu, China.
Zongyao RenMOE Key Laboratory of Rare Pediatric Diseases & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, and Department of Psychiatry, The Second Xiangya Hospital, Central South University, Changsha, Hunan 410000, China.
Feiran WangMOE Key Laboratory of Rare Pediatric Diseases & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, and Department of Psychiatry, The Second Xiangya Hospital, Central South University, Changsha, Hunan 410000, China.
Qiuman LiangMOE Key Laboratory of Rare Pediatric Diseases & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, and Department of Psychiatry, The Second Xiangya Hospital, Central South University, Changsha, Hunan 410000, China.
Yi JiangMOE Key Laboratory of Rare Pediatric Diseases & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, and Department of Psychiatry, The Second Xiangya Hospital, Central South University, Changsha, Hunan 410000, China.
Rujia DaiDepartment of Psychiatry, SUNY Upstate Medical University, Syracuse, NY, USA.
Fangyuan DuanMOE Key Laboratory of Rare Pediatric Diseases & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, and Department of Psychiatry, The Second Xiangya Hospital, Central South University, Changsha, Hunan 410000, China.
Cong HanMOE Key Laboratory of Rare Pediatric Diseases & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, and Department of Psychiatry, The Second Xiangya Hospital, Central South University, Changsha, Hunan 410000, China.
Zhilin NingKey Laboratory of Computational Biology, Shanghai Institute of Nutrition and Health, University of Chinese Academy of Sciences, Chinese Academy of Sciences, Shanghai, China.
Yan XiaDepartment of Molecular Biophysics and Biochemistry, Yale University, New Haven, CT, USA.
Miao LiMOE Key Laboratory of Rare Pediatric Diseases & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, and Department of Psychiatry, The Second Xiangya Hospital, Central South University, Changsha, Hunan 410000, China.
Kai YuanBroad Institute of MIT and Harvard, Cambridge, MA, USA.
Wenying QiuInstitute of Basic Medical Sciences, Neuroscience Center, National Human Brain Bank for Development and Function, Chinese Academy of Medical Sciences, Department of Human Anatomy, Histology and Embryology, School of Basic Medicine, Peking Union Medical College, Beijing, China.
Xiao-Xin YanDepartment of Human Anatomy and Neurobiology, Xiangya School of Medicine, Central South University, Changsha, China.
Jiapei DaiWuhan Institute for Neuroscience and Engineering, South-Central Minzu University, Wuhan, China.
Richard F KoppDepartment of Psychiatry, SUNY Upstate Medical University, Syracuse, NY, USA.
Jufang HuangDepartment of Human Anatomy and Neurobiology, Xiangya School of Medicine, Central South University, Changsha, China.
Shuhua XuState Key Laboratory of Genetic Engineering, Center for Evolutionary Biology, Collaborative Innovation Center of Genetics and Development, School of Life Sciences, Fudan University, Shanghai, China.
Beisha TangNational Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha, China.
Lingqian WuMOE Key Laboratory of Rare Pediatric Diseases & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, and Department of Psychiatry, The Second Xiangya Hospital, Central South University, Changsha, Hunan 410000, China.
Eric R GamazonDivision of Genetic Medicine, Vanderbilt University School of Medicine, Nashville, TN, USA.
Tim BigdeliInstitute for Genomics in Health, SUNY Downstate Health Sciences University, Brooklyn, NY, USA.
Elliot GershonDepartment of Psychiatry and Behavioral Neuroscience, University of Chicago, Chicago, IL, USA.
Hailiang HuangBroad Institute of MIT and Harvard, Cambridge, MA, USA.
Chao MaInstitute of Basic Medical Sciences, Neuroscience Center, National Human Brain Bank for Development and Function, Chinese Academy of Medical Sciences, Department of Human Anatomy, Histology and Embryology, School of Basic Medicine, Peking Union Medical College, Beijing, China.
Chunyu LiuMOE Key Laboratory of Rare Pediatric Diseases & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, and Department of Psychiatry, The Second Xiangya Hospital, Central South University, Changsha, Hunan 410000, China; Department of Psychiatry, SUNY Upstate Medical University, Syracuse, NY, USA. Electronic address: liuch@upstate.edu.
Chao ChenMOE Key Laboratory of Rare Pediatric Diseases & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, and Department of Psychiatry, The Second Xiangya Hospital, Central South University, Changsha, Hunan 410000, China; National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha, China; Hunan Key Laboratory of Animal Models for Human Diseases, Central South University, Changsha, China. Electronic address: chenchao@sklmg.edu.cn.

Funding

Genetic variants affect brain gene expression and risks of psychiatric disordersU01MH103340 · NIMH · UPSTATE MEDICAL UNIVERSITY · PI LIU, CHUNYU, RZHETSKY, ANDREY · 2014 to 2017
$4.3M
Gene Expression Regulation in Brains of East Asian, African, and European Descent Explains Schizophrenia GWAS in Diverse Populations.R01MH126459 · NIMH · UPSTATE MEDICAL UNIVERSITY · PI Chunyu Liu · 2022 to 2026
$3.7M
NIMH NIH HHS R01 MH126459NIMH NIH HHS U01 MH103340
6 · The paper itself

Abstract

Research on brain expression quantitative trait loci (eQTLs) has illuminated the genetic underpinnings of schizophrenia (SCZ). Yet most of these studies have been centered on European populations, leading to a constrained understanding of population diversities and disease risks. To address this gap, we examined genotype and RNA-seq data from African Americans (AA, n = 158), Europeans (EUR, n = 408), and East Asians (EAS, n = 217). When comparing eQTLs between EUR and non-EUR populations, we observed concordant patterns of genetic regulatory effect, particularly in terms of the effect sizes of the eQTLs. However, 343,737 cis-eQTLs linked to 1,276 genes and 198,769 SNPs were found to be specific to non-EUR populations. Over 90% of observed population differences in eQTLs could be traced back to differences in allele frequency. Furthermore, 35% of these eQTLs were notably rare in the EUR population. Integrating brain eQTLs with SCZ signals from diverse populations, we observed a higher disease heritability enrichment of brain eQTLs in matched populations compared to mismatched ones. Prioritization analysis identified five risk genes (SFXN2, VPS37B, DENR, FTCDNL1, and NT5DC2) and three potential regulatory variants in known risk genes (CNNM2, MTRFR, and MPHOSPH9) that were missed in the EUR dataset. Our findings underscore that increasing genetic ancestral diversity is more efficient for power improvement than merely increasing the sample size within single-ancestry eQTLs datasets. Such a strategy will not only improve our understanding of the biological underpinnings of population structures but also pave the way for the identification of risk genes in SCZ.

Indexed as

BrainQuantitative Trait LociSchizophreniaBlack or African AmericanEast Asian PeopleGene FrequencyGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansMalePolymorphism, Single NucleotideWhite PeopleeQTLsGWAS signalspopulation diversityschizophrenia

Identifiers

PMID39362218
PMCPMC11568756

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