Evidence map›Paper›PMID 29581422›Full record

ArticleTranslational psychiatry2018

Low-frequency and rare variants may contribute to elucidate the genetics of major depressive disorder.

Chenglong Yu, Mauricio Arcos-Burgos, Bernhard T Baune, Volker Arolt, Udo Dannlowski, Ma-Li Wong, Julio Licinio

Abstract read
In one paragraph

Article in Translational psychiatry, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
17citing papers in PubMed, 3 pooled it
–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

17 citing papers in PubMed, 3 syntheses or guidelines pooled it.

  1. Pooled it
  2. Pooled it
  3. Pooled it
  4. Trial
  5. A rare variant inProceedings of the National Academy of Sciences of the United States of America · 2025
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  10. Imputation of 3 million SNPs in the Arabidopsis regional mapping population.The Plant journal : for cell and molecular biology · 2020
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

7 authors.

Chenglong YuCentre for Population Health Research, School of Health Sciences and Sansom Institute of Health Research, University of South Australia, Adelaide, SA, Australia. chenglong.yu@flinders.edu.au.ORCID http://orcid.org/0000-0002-3248-8421
Mauricio Arcos-BurgosGENIUROS group, Center for Research in Genetics and Genomics, Institute of Translational Medicine, School of Medicine and Health Sciences, Universidad del Rosario, Bogotá, Colombia.
Bernhard T BauneDiscipline of Psychiatry, Adelaide Medical School, University of Adelaide, Adelaide, SA, Australia.ORCID http://orcid.org/0000-0001-6548-426X
Volker AroltDepartment of Psychiatry and Psychotherapy, University of Münster, Münster, Germany.
Udo DannlowskiDepartment of Psychiatry and Psychotherapy, University of Münster, Münster, Germany.
Ma-Li WongMind and Brain Theme, South Australian Health and Medical Research Institute, Adelaide, SA, Australia.
Julio LicinioDepartments of Psychiatry, Pharmacology and Medicine, College of Medicine, State University of New York, Upstate Medical University, Syracuse, NY, USA. licinioj@upstate.edu.

Funding

UCLA PHARMACOGENETICS &PHARMACOGENOMICS RESEARCH GROUPU01GM061394 · NIGMS · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI LICINIO, JULIO · 2000 to 2005
$4.7M
NIGMS NIH HHS U01 GM061394
6 · The paper itself

Abstract

Major depressive disorder (MDD) is a common but serious psychiatric disorder with significant levels of morbidity and mortality. Recent genome-wide association studies (GWAS) on common variants increase our understanding of MDD; however, the underlying genetic basis remains largely unknown. Many studies have been proposed to explore the genetics of complex diseases from a viewpoint of the "missing heritability" by considering low-frequency and rare variants, copy-number variations, and other types of genetic variants. Here we developed a novel computational and statistical strategy to investigate the "missing heritability" of MDD. We applied Hamming distance on common, low-frequency, and rare single-nucleotide polymorphism (SNP) sets to measure genetic distance between two individuals, and then built the multi-dimensional scaling (MDS) pictures. Whole-exome genotyping data from a Los Angeles Mexican-American cohort (203 MDD and 196 controls) and a European-ancestry cohort (473 MDD and 497 controls) were examined using our proposed methodology. MDS plots showed very significant separations between MDD cases and healthy controls for low-frequency SNP set (P value < 2.2e-16) and rare SNP set (P value = 7.681e-12). Our results suggested that low-frequency and rare variants may play more significant roles in the genetics of MDD.

Indexed as

Genetic Predisposition to DiseaseGenetic VariationAdultCohort StudiesExome SequencingFemaleGenetics, PopulationGenotypeGenotyping TechniquesHumansMajor Depressive DisorderMaleMexican AmericansPolymorphism, Single NucleotideWhite People

Identifiers

PMID29581422
PMCPMC5913271

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.