Evidence map›Paper›PMID 34368645›Full record

ArticleJournal of translational genetics and genomics2021

Shared genomic segment analysis in a large high-risk chronic lymphocytic leukemia pedigree implicates

Julie E Feusier, Michael J Madsen, Brian J Avery, Justin A Williams, Deborah M Stephens, Boyu Hu, Afaf E G Osman, Martha J Glenn, Nicola J Camp

Open access · diamondAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of translational genetics and genomics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.4field-weighted citation impact, top 38% 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

2 citing papers in PubMed, 3 citations in OpenAlex.

  1. Familial risk of placental abruption.European journal of obstetrics, gynecology, and reproductive biology · 2026
    Article
  2. 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

9 authors at 2 institutions in 1 country.

Julie E FeusierHuntsman Cancer Institute, University of Utah, Salt Lake City, UT 84112, USA.
Michael J MadsenHuntsman Cancer Institute, University of Utah, Salt Lake City, UT 84112, USA.
Brian J AveryHuntsman Cancer Institute, University of Utah, Salt Lake City, UT 84112, USA.
Justin A WilliamsHuntsman Cancer Institute, University of Utah, Salt Lake City, UT 84112, USA.
Deborah M StephensHuntsman Cancer Institute, University of Utah, Salt Lake City, UT 84112, USA.
Boyu HuHuntsman Cancer Institute, University of Utah, Salt Lake City, UT 84112, USA.
Afaf E G OsmanDivision of Hematology and Hematological Malignancies, Department of Internal Medicine, University of Utah, Salt Lake City, UT 84112, USA.
Martha J GlennHuntsman Cancer Institute, University of Utah, Salt Lake City, UT 84112, USA.
Nicola J CampHuntsman Cancer Institute, University of Utah, Salt Lake City, UT 84112, USA.
Huntsman Cancer Institute · USUniversity of Utah · US

Funding

UTAH REGIONAL CANCER CENTERP30CA042014 · NCI · UTAH STATE HIGHER EDUCATION SYSTEM--UNIVERSITY OF UTAH · PI Jared P Rutter · 1986 to 2026
$72.6M
Utah Center for Clinical and Translational ScienceUL1TR002538 · NCATS · UNIVERSITY OF UTAH · PI HESS, RACHEL, MAJERSIK, JENNIFER JUHL · 2018 to 2022
$26.0M
GENETIC EPIDEMIOLOGY OF CHRONIC LYMPHOCYTIC LEUKEMIAR01CA134674 · NCI · UNIVERSITY OF UTAH · PI CAMP, NICOLA J. · 2010 to 2016
$3.8M
NRSA Training CoreTL1TR002540 · NCATS · UNIVERSITY OF UTAH · PI FAGERLIN, ANGELA, FAIRFAX, KEKE CELESTE · 2018 to 2022
$1.6M
NCATS NIH HHS TL1 TR002540NCATS NIH HHS UL1 TR002538NCI NIH HHS HHSN261201800016CNCI NIH HHS HHSN261201800016INCI NIH HHS P30 CA042014NCI NIH HHS R01 CA134674
6 · The paper itself

Abstract

aimChronic lymphocytic leukemia (CLL) has been shown to cluster in families. First-degree relatives of individuals with CLL have an ~8 fold increased risk of developing the malignancy. Strong heritability suggests pedigree studies will have good power to localize pathogenic genes. However, CLL is relatively rare and heterogeneous, complicating ascertainment and analyses. Our goal was to identify CLL risk loci using unique resources available in Utah and methods to address intra-familial heterogeneity.

methodsWe identified a six-generation high-risk CLL pedigree using the Utah Population Database. This pedigree contains 24 CLL cases connected by a common ancestor. We ascertained and genotyped eight CLL cases using a high-density SNP array, and then performed shared genomic segment (SGS) analysis - a method designed for extended high-risk pedigrees that accounts for heterogeneity.

resultsWe identified a genome-wide significant region (

conclusionSGS analysis of an extended high-risk CLL pedigree identified the most significant evidence to-date for a 0.9 Mb CLL disease locus at 2q22.1, harboring

Indexed as

chronic lymphocytic leukemia (CLL)CXCR4Gene-mappinglinkagepedigreeshared genomic segment (SGS)Utah Population Database (UPDB)

Identifiers

PMID34368645
PMCPMC8341589
OpenAlexW3173961656

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.