Evidence map›Paper›PMID 32059762›Full record

ArticleAmerican journal of human genetics2020

Genome-wide Association Study for Vitamin D Levels Reveals 69 Independent Loci.

Despoina Manousaki, Ruth Mitchell, Tom Dudding, Simon Haworth, Adil Harroud, Vincenzo Forgetta, Rupal L Shah, Jian'an Luan, Claudia Langenberg, Nicholas J Timpson and 1 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in American journal of human genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 150 papers, 13 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
150citing papers in PubMed, 13 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

150 citing papers in PubMed, 13 syntheses or guidelines pooled it.

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  4. The Lebanese GRADE-based vitamin D guidelines: a paradigm for the MENA region.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2025
    Guideline
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  14. Trial
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  16. Innovative digital solution supporting sun protection and vitamin D synthesis by using satellite-based monitoring of solar radiation.Photochemical & photobiological sciences : Official journal of the European Photochemistry Association and the European Society for Photobiology · 2022
    Trial
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90 more citing papers are in PubMed but not listed here.

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

11 authors.

Despoina ManousakiDepartment of Human Genetics, McGill University, Montreal, QC H3A 1B1, Canada; Centre for Clinical Epidemiology, Department of Epidemiology, Lady Davis Institute for Medical Research, Jewish General Hospital, Montreal, QC H3T 1E2, Canada.
Ruth MitchellMRC Integrative Epidemiology Unit, Department of Population Health Sciences, Bristol Medical School, University of Bristol, Bristol BS8 2BN, UK.
Tom DuddingMRC Integrative Epidemiology Unit, Department of Population Health Sciences, Bristol Medical School, University of Bristol, Bristol BS8 2BN, UK; Bristol Dental School, University of Bristol, Bristol BS8 2BN, UK.
Simon HaworthMRC Integrative Epidemiology Unit, Department of Population Health Sciences, Bristol Medical School, University of Bristol, Bristol BS8 2BN, UK; Bristol Dental School, University of Bristol, Bristol BS8 2BN, UK.
Adil HarroudDepartment of Neurology and Neurosurgery, McGill University, Montreal, QC H3A 2B4, Canada.
Vincenzo ForgettaCentre for Clinical Epidemiology, Department of Epidemiology, Lady Davis Institute for Medical Research, Jewish General Hospital, Montreal, QC H3T 1E2, Canada.
Rupal L ShahMRC Epidemiology Unit, University of Cambridge, Cambridge CB2 0SL, UK.
Jian'an LuanMRC Epidemiology Unit, University of Cambridge, Cambridge CB2 0SL, UK.
Claudia LangenbergMRC Epidemiology Unit, University of Cambridge, Cambridge CB2 0SL, UK.
Nicholas J TimpsonMRC Integrative Epidemiology Unit, Department of Population Health Sciences, Bristol Medical School, University of Bristol, Bristol BS8 2BN, UK.
J Brent RichardsDepartment of Human Genetics, McGill University, Montreal, QC H3A 1B1, Canada; Centre for Clinical Epidemiology, Department of Epidemiology, Lady Davis Institute for Medical Research, Jewish General Hospital, Montreal, QC H3T 1E2, Canada; Department of Medicine, McGill University Montreal, QC H3G 1Y6, Canada; Department of Epidemiology, Biostatistics and Occupational Health, McGill University, Montreal, QC H3A 1A2, Canada; Department of Twin Research and Genetic Epidemiology, King's College London, London WC2R 2LS, UK. Electronic address: brent.richards@mcgill.ca.

Funding

CIHRMedical Research Council G0701603Medical Research Council G9815508Medical Research Council MC_PC_12028Medical Research Council MC_PC_15018Medical Research Council MC_PC_17228Medical Research Council MC_PC_19009Medical Research Council MC_QA137853Medical Research Council MC_UU_12013/3Medical Research Council MC_UU_12015/1Wellcome Trust 202802/Z/16/Z
6 · The paper itself

Abstract

We aimed to increase our understanding of the genetic determinants of vitamin D levels by undertaking a large-scale genome-wide association study (GWAS) of serum 25 hydroxyvitamin D (25OHD). To do so, we used imputed genotypes from 401,460 white British UK Biobank participants with available 25OHD levels, retaining single-nucleotide polymorphisms (SNPs) with minor allele frequency (MAF) > 0.1% and imputation quality score > 0.3. We performed a linear mixed model GWAS on standardized log-transformed 25OHD, adjusting for age, sex, season of measurement, and vitamin D supplementation. These results were combined with those from a previous GWAS including 42,274 Europeans. In silico functional follow-up of the GWAS results was undertaken to identify enrichment in gene sets, pathways, and expression in tissues, and to investigate the partitioned heritability of 25OHD and its shared heritability with other traits. Using this approach, the SNP heritability of 25OHD was estimated to 16.1%. 138 conditionally independent SNPs were detected (p value < 6.6 × 10

Indexed as

Genome-Wide Association StudyFemaleGene-Environment InteractionHumansMalePolymorphism, Single NucleotideVitamin D25-hydroxyvitamin DVitamin Dgene-environment interactiongenetic correlationgenome-wide association studiespartitioned heritabilitypathway analysisrare variantsvitamin D

Identifiers

PMID32059762
PMCPMC7058824

What Socratic holds

Textmetadata
Read underepoch 390

Registered trials

None linked

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 Socratic graph.