Evidence map›Paper›PMID 36846987›Full record

ArticleJournal of the American Heart Association2023

Inference of Causal Relationships Between Genetic Risk Factors for Cardiometabolic Phenotypes and Female-Specific Health Conditions.

Brenda Xiao, Digna R Velez Edwards, Anastasia Lucas, Theodore Drivas, Kathryn Gray, Brendan Keating, Chunhua Weng, Gail P Jarvik, Hakon Hakonarson, Leah Kottyan and 7 more

Erratum issuedOpen access · goldAbstract read
In one paragraph

Article in Journal of the American Heart Association, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 8 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed, 1 pooled it
4.7field-weighted citation impact, top 5% of its field
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

8 citing papers in PubMed, 1 synthesis or guideline pooled it, 15 citations in OpenAlex.

  1. Pooled it
  2. Review
  3. Article
  4. Article
  5. Article
  6. Article
  7. Journal of the American Heart Association · 2023
    Article
  8. Review
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

17 authors at 8 institutions in 1 country.

Brenda XiaoGraduate Program in Genomics and Computational Biology University of Pennsylvania Philadelphia PA.ORCID 0000-0003-4202-7247
Digna R Velez EdwardsDivision of Quantitative Sciences, Department of Obstetrics and Gynecology Vanderbilt University Medical Center Nashville TN.
Anastasia LucasDepartment of Genetics University of Pennsylvania Philadelphia PA.
Theodore DrivasDepartment of Genetics University of Pennsylvania Philadelphia PA.ORCID 0000-0002-8717-0111
Kathryn GrayDepartment of Obstetrics and Gynecology Brigham and Women's Hospital Boston MA.ORCID 0000-0002-3541-3724
Brendan KeatingDepartment of Surgery University of Pennsylvania Philadelphia PA.
Chunhua WengDepartment of Biomedical Informatics Columbia University New York NY.ORCID 0000-0002-9624-0214
Gail P JarvikDepartments of Medicine (Medical Genetics) and Genome Sciences University of Washington Medical Center Seattle WA.ORCID 0000-0002-6710-8708
Hakon HakonarsonCenter for Applied Genomics, Children's Hospital of Philadelphia Philadelphia PA.ORCID 0000-0003-2814-7461
Leah KottyanCenter for Autoimmune Genomics and Etiology and Division of Allergy & Immunology, Cincinnati Children's Hospital Medical Center, Department of Pediatrics University of Cincinnati OH.ORCID 0000-0003-3979-2220
Noemie ElhadadDepartment of Biomedical Informatics Columbia University New York NY.
Wei-Qi WeiDepartment of Biomedical Informatics Vanderbilt University Medical Center Nashville TN.ORCID 0000-0003-4985-056X
Yuan LuoDepartment of Preventive Medicine, Feinberg School of Medicine Northwestern University Evanston IL.ORCID 0000-0003-0195-7456
Dokyoon KimDepartment of Biostatistics and Epidemiology University of Pennsylvania Philadelphia PA.ORCID 0000-0002-4592-9564
Marylyn RitchieDepartment of Genetics University of Pennsylvania Philadelphia PA.ORCID 0000-0002-1208-1720
Shefali Setia VermaDepartment of Pathology and Laboratory Medicine University of Pennsylvania Philadelphia PA.ORCID 0000-0001-5216-4670
Regeneron Genetics Center *
University of Pennsylvania · USColumbia University · USVanderbilt University Medical Center · USBrigham and Women's Hospital · USChildren's Hospital of Philadelphia · USCincinnati Children's Hospital Medical Center · USNorthwestern University · USUniversity of Washington Medical Center · US

Funding

Genomic Basis of Susceptibility to COVID-19 Infection and its ComplicationsU01HG006379 · NHGRI · MAYO CLINIC ROCHESTER · PI Richard R. Sharp · 2011 to 2026
$16.5M
OMOP information model for eMERGE phenotypingU01HG008680 · NHGRI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI Wendy K Chung, GEORGE M HRIPCSAK · 2015 to 2026
$13.3M
Genomic risk in clinic care to promote health equity in New York City patientsU01HG011176 · NHGRI · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI NOURA SERENE ABUL-HUSN, Eimear Elizabeth Kenny · 2020 to 2026
$10.4M
Utilizing Polygenic Risk to Understand and Improve Outcomes: A Model For Overturning Health Disparities Through Minority-Enriched Genomics HealthcareU01HG011175 · NHGRI · CHILDREN'S HOSP OF PHILADELPHIA · PI Hakon Hakonarson · 2020 to 2026
$10.3M
Polygenic Risk Scores for Healthier African American FamiliesU01HG011172 · NHGRI · CINCINNATI CHILDRENS HOSP MED CTR · PI Leah Claire Kottyan, LISA J MARTIN · 2020 to 2026
$7.2M
NHGRI NIH HHS U01 HG006379NHGRI NIH HHS U01 HG008680NHGRI NIH HHS U01 HG011172NHGRI NIH HHS U01 HG011175NHGRI NIH HHS U01 HG011176
6 · The paper itself

Abstract

Background Cardiometabolic diseases are highly comorbid, but their relationship with female-specific or overwhelmingly female-predominant health conditions (breast cancer, endometriosis, pregnancy complications) is understudied. This study aimed to estimate the cross-trait genetic overlap and influence of genetic burden of cardiometabolic traits on health conditions unique to women. Methods and Results Using electronic health record data from 71 008 ancestrally diverse women, we examined relationships between 23 obstetrical/gynecological conditions and 4 cardiometabolic phenotypes (body mass index, coronary artery disease, type 2 diabetes, and hypertension) by performing 4 analyses: (1) cross-trait genetic correlation analyses to compare genetic architecture, (2) polygenic risk score-based association tests to characterize shared genetic effects on disease risk, (3) Mendelian randomization for significant associations to assess cross-trait causal relationships, and (4) chronology analyses to visualize the timeline of events unique to groups of women with high and low genetic burden for cardiometabolic traits and highlight the disease prevalence in risk groups by age. We observed 27 significant associations between cardiometabolic polygenic scores and obstetrical/gynecological conditions (body mass index and endometrial cancer, body mass index and polycystic ovarian syndrome, type 2 diabetes and gestational diabetes, type 2 diabetes and polycystic ovarian syndrome). Mendelian randomization analysis provided additional evidence of independent causal effects. We also identified an inverse association between coronary artery disease and breast cancer. High cardiometabolic polygenic scores were associated with early development of polycystic ovarian syndrome and gestational hypertension. Conclusions We conclude that polygenic susceptibility to cardiometabolic traits is associated with elevated risk of certain female-specific health conditions.

Indexed as

Coronary Artery DiseaseDiabetes Mellitus, Type 2Polycystic Ovary SyndromeFemaleHumansPhenotypeRisk Factorscardiometabolic diseasesfemale health conditionsgenomic burdenMendelian randomizationpolygenic risk scores

Identifiers

PMID36846987
PMCPMC10111435
OpenAlexW4322496086

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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 OpenQuestion graph.