Evidence map›Paper›PMID 36167494›Full record

ArticleBMC genomics2022

Genome-wide association analyses of common infections in a large practice-based biobank.

Lan Jiang, V Eric Kerchberger, Christian Shaffer, Alyson L Dickson, Michelle J Ormseth, Laura L Daniel, Barbara G Carranza Leon, Nancy J Cox, Cecilia P Chung, Wei-Qi Wei and 2 more

Abstract read
In one paragraph

Article in BMC genomics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing 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

7 citing papers in PubMed.

  1. Article
  2. Article
  3. Rare and low-frequency variants in families with otitis media.Journal of molecular medicine (Berlin, Germany) · 2025
    Article
  4. Article
  5. Review
  6. Article
  7. Article
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

12 authors.

Lan JiangDivision of Clinical Pharmacology, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
V Eric KerchbergerDepartment of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN, USA.
Christian ShafferDivision of Clinical Pharmacology, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Alyson L DicksonDivision of Rheumatology and Immunology, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Michelle J OrmsethDivision of Clinical Pharmacology, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Laura L DanielDivision of Rheumatology and Immunology, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Barbara G Carranza LeonDivision of Diabetes, Endocrinology and Metabolism, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Nancy J CoxDepartment of Medicine, Vanderbilt Genetic Institute, Vanderbilt University Medical Center, Nashville, TN, USA.
Cecilia P ChungDivision of Clinical Pharmacology, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Wei-Qi WeiDepartment of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN, USA.
C Michael SteinDivision of Clinical Pharmacology, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
QiPing FengDivision of Clinical Pharmacology, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA. qiping.feng@vumc.org.

Funding

Genetics and Triglycerides: opportunities for new approaches to identify therapiesR01HL163854 · NHLBI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI FENG, QIPING · 2022 to 2025
$3.1M
Pleiotropy of PCSK9 InhibitionR01GM120523 · NIGMS · VANDERBILT UNIVERSITY MEDICAL CENTER · PI FENG, QIPING · 2016 to 2020
$1.7M
Tissue-specific functional genomics in the acute respiratory distress syndromeK01HL157755 · NHLBI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI KERCHBERGER, VERN ERIC · 2021 to 2025
$845k
NHLBI NIH HHS K01 HL157755NHLBI NIH HHS R01 HL163854NIGMS NIH HHS R01 GM120523
6 · The paper itself

Abstract

introductionInfectious diseases are common causes of morbidity and mortality worldwide. Susceptibility to infection is highly heritable; however, little has been done to identify the genetic determinants underlying common infectious diseases. One GWAS was performed using 23andMe information about self-reported infections; we set out to confirm previous loci and identify new ones using medically diagnosed infections.

methodsWe used the electronic health record (EHR)-based biobank at Vanderbilt and diagnosis codes to identify cases of 12 infectious diseases in white patients: urinary tract infection, pneumonia, chronic sinus infections, otitis media, candidiasis, streptococcal pharyngitis, herpes zoster, herpes labialis, hepatitis B, infectious mononucleosis, tuberculosis (TB) or a positive TB test, and hepatitis C. We selected controls from patients with no diagnosis code for the candidate disease and matched by year of birth, sex, and calendar year at first and last EHR visits. We conducted GWAS using SAIGE and transcriptome-wide analysis (TWAS) using S-PrediXcan. We also conducted phenome-wide association study to understand associations between identified genetic variants and clinical phenotypes.

resultsWe replicated three 23andMe loci (p ≤ 0.05): herpes zoster and rs7047299-A (p = 2.6 × 10

conclusionWe conducted GWAS and TWAS for 12 infectious diseases and identified novel genetic contributors to the susceptibility of infectious diseases.

Indexed as

CandidiasisCommunicable DiseasesHepatitis BHerpes ZosterOtitis MediaBiological Specimen BanksGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansPolymorphism, Single NucleotideEHRGWASInfection

Identifiers

PMID36167494
PMCPMC9512962

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Registered trials

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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.