Evidence map›Paper›PMID 40263602›Full record

ArticleGenes and immunity2025

A scan of pleiotropic immune mediated disease genes identifies novel determinants of baseline FVIII inhibitor status in hemophilia A.

Marcio A Almeida, Vincent P Diego, Kevin R Viel, Bernadette W Luu, Karin Haack, Raja Rajalingam, Afshin Ameri, Meera Chitlur, Natalia Rydz, David Lillicrap and 24 more

Erratum issuedAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Genes and immunity, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. 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

5 · Who and what money

Authors and funding

34 authors.

Marcio A Almeida *South Texas Diabetes and Obesity Institute, and Department of Human Genetics, School of Medicine, University of Texas Rio Grande Valley, Brownsville, TX, USA. Marcio.Almeida@utrgv.edu.
Vincent P Diego *South Texas Diabetes and Obesity Institute, and Department of Human Genetics, School of Medicine, University of Texas Rio Grande Valley, Brownsville, TX, USA.
Kevin R Viel *Histonis, Inc., Portsmouth, NH, USA.
Bernadette W Luu *Haplogenics Corporation, Brownsville, TX, USA.
Karin HaackPopulation Health Program, Texas Biomedical Research Institute, San Antonio, TX, USA.
Raja RajalingamImmunogenetics and Transplantation Laboratory, Department of Surgery, School of Medicine, University of California at San Francisco, San Francisco, CA, USA.
Afshin AmeriDepartment of Pediatrics, Division of Hematology and Oncology, Georgia Health Sciences University, Augusta, GA, USA.
Meera ChitlurChildren's Hospital of Michigan, Wayne State University, Pediatric Hematology and Oncology, Detroit, MI, USA.
Natalia RydzDivision of Hematology and Hematological Malignancies, Department of Medicine, University of Calgary, Calgary, AB, Canada.
David LillicrapDepartment of Pathology and Molecular Medicine, Queen's University at Kingston, Kingston, ON, Canada.
Raymond G WattsLouisiana State University Health Sciences Center, New Orleans, LA, USA.
Craig M KesslerGeorgetown University, Washington, DC, USA.
Christopher RamseyClever Culture Systems, San Diego, CA, USA.
Long V DinhHaplogenics Corporation, Brownsville, TX, USA.
Benjamin KimConsultant, Brisbane, CA, USA.
Jerry S PowellHaplogenics Corporation, Brownsville, TX, USA.
Eron G ManusovSouth Texas Diabetes and Obesity Institute, and Department of Human Genetics, School of Medicine, University of Texas Rio Grande Valley, Brownsville, TX, USA.
Juan M PeraltaSouth Texas Diabetes and Obesity Institute, and Department of Human Genetics, School of Medicine, University of Texas Rio Grande Valley, Brownsville, TX, USA.
Ruayda BoulsSchool of Medicine, University of Texas Rio Grande Valley, Edinburg, TX, USA.
Shirley M AbrahamDivision of Hematology and Oncology, Department of Pediatrics, School of Medicine, University of New Mexico, Albuquerque, NM, USA.
Yu-Min ShenDivision of Hematology and Oncology, Department of Internal Medicine, School of Medicine, University of Texas Southwestern, Dallas, TX, USA.
Carlos M MurilloServicio de Hematologia, Hospital General de México "Dr. Eduardo Liceaga" and Facultad de Medicina, Universidad Nacional Autonóma de México, Ciudad de México, Distrito Federal, Mexico.
Henry MeadGlobal Medical Affairs, BioMarin, Novato, CA, USA.
Paul V LehmannDepartments of Pathology and Neurology, Case Western Reserve University School of Medicine, Cleveland, OH, USA.
Eli J FineConsultant, Atlanta, GA, USA.
Miguel A EscobarDivision of Hematology and Oncology, Department of Medicine, University of Texas Health Science Center and Gulf States Hemophilia and Thrombophilia Center, Houston, TX, USA.
Satish KumarSouth Texas Diabetes and Obesity Institute, and Department of Human Genetics, School of Medicine, University of Texas Rio Grande Valley, Brownsville, TX, USA.
Barbara A KonkleResearch Institute, Bloodworks and Department of Medicine, University of Washington, Seattle, WA, USA.
Sarah Williams-BlangeroSouth Texas Diabetes and Obesity Institute, and Department of Human Genetics, School of Medicine, University of Texas Rio Grande Valley, Brownsville, TX, USA.
Carol K KasperDivision of Hematology, Department of Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
Laura AlmasyDepartment of Biomedical and Health Informatics, Lifespan Brain Institute, Children's Hospital of Philadelphia and Department of Genetics, University of Pennsylvania School of Medicine, Philadelphia, PA, USA.
Shelley A ColePopulation Health Program, Texas Biomedical Research Institute, San Antonio, TX, USA.
John BlangeroSouth Texas Diabetes and Obesity Institute, and Department of Human Genetics, School of Medicine, University of Texas Rio Grande Valley, Brownsville, TX, USA.ORCID 0000-0001-6250-5723
Tom E HowardSouth Texas Diabetes and Obesity Institute, and Department of Human Genetics, School of Medicine, University of Texas Rio Grande Valley, Brownsville, TX, USA. Tom.Howard@utrgv.edu.ORCID 0000-0002-4550-278X

Funding

The Southwest National Primate Research Center Supplement- Infrastructure improvements of ABSL2 holding areasP51OD011133 · OD · TEXAS BIOMEDICAL RESEARCH INSTITUTE · PI Larry S. Schlesinger · 2012 to 2026
$129.7M
Workforce Development CoreU54HG013247 · NHGRI · UNIVERSITY OF TEXAS RIO GRANDE VALLEY · PI John Blangero · 2023 to 2026
$10.5M
Mechanisms of Race-Based Differences in Factor VIII Immunogenicity in HemophiliaRC2HL101851 · NHLBI · SEPULVEDA RESEARCH CORPORATION · PI HOWARD, TOM EUGENE, PRATT, KATHLEEN PALMER · 2009 to 2010
$6.5M
Construction of a Biomedical Research Facility at the U*C06RR020547 · NCRR · UNIV/TEXAS BROWNSVILLE & SOUTHMOST COLL · PI KROUSE, JOHN H · 2010 to 2010
$4.0M
Omic Approaches to Factor VIII Inhibitor Development in Hemophilia Patients of Mexican DescentR01HL169763 · NHLBI · UNIVERSITY OF TEXAS RIO GRANDE VALLEY · PI MIGUEL Antonio ESCOBAR, Tom Eugene Howard · 2024 to 2026
$2.0M
NCRR NIH HHS C06 RR020547NHGRI NIH HHS U54 HG013247NHLBI NIH HHS R01 HL169763NHLBI NIH HHS RC2 HL101851NIH HHS P51 OD011133U.S. Department of Health & Human Services | NIH | National Heart, Lung, and Blood Institute (NHLBI) K08-HL72533U.S. Department of Health & Human Services | NIH | National Heart, Lung, and Blood Institute (NHLBI) R01-HL169763U.S. Department of Health & Human Services | NIH | National Heart, Lung, and Blood Institute (NHLBI) R01-HL71130
6 · The paper itself

Abstract

Hemophilia-A (HA) is the X-linked bleeding disorder caused by heterogeneous factor (F)VIII gene (F8)-mutations and deficiencies in plasma-FVIII-activity that prevent intrinsic-pathway mediated coagulation-amplification. Severe-HA patients (HAPs) require life-long infusions of therapeutic-FVIII-proteins (tFVIIIs) but ~30% develop neutralizing-tFVIII-antibodies called "FVIII-inhibitors (FEIs)". We investigated the genetics underlying the variable risk of FEI-development in 450 North American HAPs (206 and 244 respectively self-reporting black-African- or white-European-ancestry) by analyzing the genotypes of single-nucleotide-variations (SNVs) in candidate immune-mediated-disease (IMD)-genes using a binary linear-mixed model of genetic association with baseline-FEI-status, the dependent variable, while simultaneously accounting for their genetic relationships and heterogeneous-F8-mutations to prevent the statistical problem of non-independence. We a priori selected gene-centric-association-scans of pleiotropic-IMD-genes implicated in the development of either ≥2 autoimmune-/autoinflammatory-disorders (AADs) or FEIs and ≥1 AAD. We found that baseline-FEI-status was significantly associated with NOS2A (rs117382854; p = 3.2 × 10

Indexed as

Factor VIIIHemophilia AAdolescentAdultFemaleHumansMaleMiddle AgedPolymorphism, Single NucleotideF8 protein, humanFactor VIII

Identifiers

PMID40263602
PMCPMC13285979

What Socratic holds

Textmetadata
LicenceTDM
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.