Evidence map›Paper›PMID 42683349›Full record

ArticleJournal of human immunity2026

The clinical utility of exome sequencing for risk stratification in celiac disease.

Talha Asif, Michele Akalay, Wendy K Chung, Peter H R Green, Xiao-Fei Kong

Abstract read
In one paragraph

Article in Journal of human immunity, 2026. 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

5 authors.

Talha AsifDivision of Digestive and Liver Diseases, Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, TX, USA.ORCID https://orcid.org/0000-0002-7607-9005
Michele AkalayDivision of Pediatric Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX, USA.ORCID https://orcid.org/0009-0006-5504-0378
Wendy K ChungDepartment of Pediatrics, Harvard Medical School, Boston Children's Hospital, Boston, MA, USA.ORCID https://orcid.org/0000-0003-3438-5685
Peter H R GreenCeliac Disease Center, Columbia University, New York, NY, USA.ORCID https://orcid.org/0000-0001-6839-9634
Xiao-Fei KongDivision of Digestive and Liver Diseases, Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, TX, USA.ORCID https://orcid.org/0000-0001-9983-2373

Funding

A genetic and immunological investigation of JAK-STAT in the pathogenesis of Celiac DiseaseK08DK128631 · NIDDK · UT SOUTHWESTERN MEDICAL CENTER · PI KONG, XIAO-FEI · 2021 to 2025
$827k
Genetic and Immunological Investigation of ABCF1 in Celiac Disease and AutoimmunityR01AI189502 · NIAID · UT SOUTHWESTERN MEDICAL CENTER · PI Xiao-Fei Kong · 2026 to 2026
$661k
Novel approaches to dissect the genetic susceptibilities to celiac diseaseR03DK144282 · NIDDK · UT SOUTHWESTERN MEDICAL CENTER · PI KONG, XIAO-FEI · 2025 to 2025
$249k
NIAID NIH HHS R01 AI189502NIDDK NIH HHS K08 DK128631NIDDK NIH HHS R03 DK144282
6 · The paper itself

Abstract

The potential utility of genetic testing among individuals with a positive celiac disease (CeD) family history remains limited. We performed whole-exome sequencing in a cohort of 107 cases with CeD and 117 unaffected relatives from 66 families. We assessed fourteen HLA-DQ genotypes, based on combinations of four risk haplotypes. Our cohort was predominantly of European ancestry (87%). Compared with at-risk controls, CeD cases showed a significant enrichment of high-risk (22.4 vs. 10.3%) and moderate-risk (64.4 vs. 35.9%) HLA-DQ genotypes. Stratification based on the weighted impact of fourteen HLA-DQ genotypes yields a more accurate risk assessment than assuming equal contributions from four risk haplotypes. The

Identifiers

PMID42683349
PMCPMC13532548

What OpenQuestion holds

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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.