Evidence map›Paper›PMID 38688863›Full record

SynthesisAmerican journal of medical genetics. Part A2024

X-linked genetic associations in sporadic thoracic aortic dissection.

Fadi I Musfee, Goo Jun, Laura E Mitchell, Han Chen, Dongchuan Guo, Siddharth K Prakash, Shaunak Sanjay Adkar, Megan L Grove, Ryan Bohyun Choi, Derek Klarin and 3 more

Abstract readMeta-Analysis
PubMed Full text at PMC Publisher
In one paragraph

Synthesis in American journal of medical genetics. Part A, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

13 authors.

Fadi I MusfeeHuman Genetics Center, Department of Epidemiology, Human Genetics and Environmental Sciences, School of Public Health, The University of Texas Health Science Center at Houston, Houston, Texas, USA.
Goo JunHuman Genetics Center, Department of Epidemiology, Human Genetics and Environmental Sciences, School of Public Health, The University of Texas Health Science Center at Houston, Houston, Texas, USA.
Laura E MitchellHuman Genetics Center, Department of Epidemiology, Human Genetics and Environmental Sciences, School of Public Health, The University of Texas Health Science Center at Houston, Houston, Texas, USA.ORCID 0000-0003-1151-5096
Han ChenHuman Genetics Center, Department of Epidemiology, Human Genetics and Environmental Sciences, School of Public Health, The University of Texas Health Science Center at Houston, Houston, Texas, USA.
Dongchuan GuoDepartment of Internal Medicine, McGovern Medical School, The University of Texas Health Science Center, Houston, Texas, USA.
Siddharth K PrakashDepartment of Internal Medicine, McGovern Medical School, The University of Texas Health Science Center, Houston, Texas, USA.
Shaunak Sanjay AdkarVeterans Affairs Palo Alto Healthcare System, Palo Alto, California, USA.
Megan L GroveHuman Genetics Center, Department of Epidemiology, Human Genetics and Environmental Sciences, School of Public Health, The University of Texas Health Science Center at Houston, Houston, Texas, USA.
Ryan Bohyun ChoiVeterans Affairs Palo Alto Healthcare System, Palo Alto, California, USA.
Derek KlarinVeterans Affairs Palo Alto Healthcare System, Palo Alto, California, USA.
Million Veteran Program
Eric BoerwinkleHuman Genetics Center, Department of Epidemiology, Human Genetics and Environmental Sciences, School of Public Health, The University of Texas Health Science Center at Houston, Houston, Texas, USA.
Dianna M MilewiczDepartment of Internal Medicine, McGovern Medical School, The University of Texas Health Science Center, Houston, Texas, USA.

Funding

Building on GWAS for NHLBI-disease: the CHARGE consortiumRC2HL102419 · NHLBI · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · PI BOERWINKLE, ERIC A. · 2009 to 2010
$27.6M
The Training CoreP50HL083794 · NHLBI · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · PI GENG, YONG-JIAN · 2006 to 2010
$11.3M
Pathology and Molecular Imaging CoreP01HL110869 · NHLBI · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · PI STULL, JAMES T · 2012 to 2016
$10.4M
Genetic Predisposition To Thoracic Aortic Aneurysms/DissectionsR01HL109942 · NHLBI · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · PI MILEWICZ, DIANNA M · 2012 to 2023
$7.5M
Genetic Basis of Aortic Aneurysms/DissectionsR01HL062594 · NHLBI · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · PI MILEWICZ, DIANNA M · 2002 to 2009
$3.2M
Diabetes Progression with Metabolomic Profiling in Starr County Mexican AmericansR01DK118631 · NIDDK · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · PI JUN, GOO · 2019 to 2023
$3.1M
The Maternal Genome and Risk of Structural Birth DefectsR03HD098552 · NICHD · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · PI JUN, GOO · 2019 to 2020
$296k
Clonal hematopoiesis and risk of peripheral artery diseaseIK2BX005759 · VA · VETERANS ADMIN PALO ALTO HEALTH CARE SYS · PI KLARIN, DEREK · 2022 to 2023
–
American Heart AssociationBaszucki Research InitiativeBLRD VA IK2 BX005759NHLBI NIH HHS HHSN268201700001CNHLBI NIH HHS HHSN268201700001INHLBI NIH HHS HHSN268201700002CNHLBI NIH HHS HHSN268201700002INHLBI NIH HHS HHSN268201700003CNHLBI NIH HHS HHSN268201700003INHLBI NIH HHS HHSN268201700004CNHLBI NIH HHS HHSN268201700004INHLBI NIH HHS HHSN268201700005CNHLBI NIH HHS HHSN268201700005INHLBI NIH HHS P01 HL110869NHLBI NIH HHS P50 HL083794NHLBI NIH HHS R01 HL062594NHLBI NIH HHS R01 HL109942NHLBI NIH HHS RC2 HL102419NICHD NIH HHS R03 HD098552NIDDK NIH HHS R01 DK118631NIH HHSU.S. Department of Veterans Affairs
6 · The paper itself

Abstract

The male predominance in sporadic thoracic aortic aneurysm and dissection (TAD) suggests that the X chromosome contributes to TAD, but this has not been tested. We investigated whether X-linked variation-common (minor allele frequency [MAF] ≥0.01) and rare (MAF <0.01)-was associated with sporadic TAD in three cohorts of European descent (Discovery: 364 cases, 874 controls; Replication: 516 cases, 440,131 controls, and ARIC [Atherosclerosis Risk in Communities study]: 753 cases, 2247 controls). For analysis of common variants, we applied a sex-stratified logistic regression model followed by a meta-analysis of sex-specific odds ratios. Furthermore, we conducted a meta-analysis of overlapping common variants between the Discovery and Replication cohorts. For analysis of rare variants, we used a sex-stratified optimized sequence kernel association test model. Common variants results showed no statistically significant findings in the Discovery cohort. An intergenic common variant near SPANXN1 was statistically significant in the Replication cohort (p = 1.81 × 10

Indexed as

Aortic Aneurysm, ThoracicDissection, Thoracic AortaGenetic Predisposition to DiseasePolymorphism, Single NucleotideAgedCase-Control StudiesChromosomes, Human, XCohort StudiesFemaleGene FrequencyGenes, X-LinkedGenetic Association StudiesGenome-Wide Association StudyHumansMaleMiddle Agedaortic dissectionassociationmeta‐analysisX‐linked genes

Identifiers

PMID38688863
PMCPMC11315632

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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.