Evidence map›Paper›PMID 23349640›Full record

ArticlePLoS genetics2013

Susceptibility loci associated with specific and shared subtypes of lymphoid malignancies.

Joseph Vijai, Tomas Kirchhoff, Kasmintan A Schrader, Jennifer Brown, Ana Virginia Dutra-Clarke, Christopher Manschreck, Nichole Hansen, Rohini Rau-Murthy, Kara Sarrel, Jennifer Przybylo and 15 more

Open access · goldAbstract read
In one paragraph

Article in PLoS genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
30citing papers in PubMed, 3 pooled it
4.9field-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

30 citing papers in PubMed, 3 syntheses or guidelines pooled it, 49 citations in OpenAlex.

  1. Pooled it
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  6. Rare GermlineJournal of clinical oncology : official journal of the American Society of Clinical Oncology · 2023
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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

25 authors at 6 institutions in 2 countries.

Joseph VijaiClinical Genetics Service, Department of Medicine, Memorial Sloan-Kettering Cancer Center, New York, New York, USA.
Tomas Kirchhoff
Kasmintan A Schrader
Jennifer Brown
Ana Virginia Dutra-Clarke
Christopher Manschreck
Nichole Hansen
Rohini Rau-Murthy
Kara Sarrel
Jennifer Przybylo
Sohela Shah
Srujana Cheguri
Zsofia Stadler
Liying Zhang
Ora Paltiel
Dina Ben-Yehuda
Agnes Viale
Carol Portlock
David Straus
Steven M Lipkin
Mortimer Lacher
Mark Robson
Robert J Klein
Andrew Zelenetz
Kenneth Offit
Memorial Sloan Kettering Cancer Center · USHadassah Medical Center · ILKettering University · USCornell University · USDana-Farber Cancer Institute · USNew York University · US

Funding

X-RAY CRYSTALLOGRAPHYP30CA008748 · NCI · SLOAN-KETTERING INSTITUTE FOR CANCER RES · PI Nicholas D Socci · 1985 to 2026
$347.4M
Whole Genome Sequencing to Discover Familial Myeloma Risk GenesR01CA167824 · NCI · WEILL MEDICAL COLL OF CORNELL UNIV · PI LIPKIN, STEVEN M, OFFIT, KENNETH · 2012 to 2016
$1.9M
Genetic Alterations in Families with Multiple LymphomasK23CA115682 · NCI · DANA-FARBER CANCER INSTITUTE · PI BROWN, JENNIFER R · 2005 to 2009
$754k
NCI NIH HHS CA167824NCI NIH HHS K23 CA115682NCI NIH HHS P30 CA008748NCI NIH HHS R01 CA167824
6 · The paper itself

Abstract

The genetics of lymphoma susceptibility reflect the marked heterogeneity of diseases that comprise this broad phenotype. However, multiple subtypes of lymphoma are observed in some families, suggesting shared pathways of genetic predisposition to these pathologically distinct entities. Using a two-stage GWAS, we tested 530,583 SNPs in 944 cases of lymphoma, including 282 familial cases, and 4,044 public shared controls, followed by genotyping of 50 SNPs in 1,245 cases and 2,596 controls. A novel region on 11q12.1 showed association with combined lymphoma (LYM) subtypes. SNPs in this region included rs12289961 near LPXN, (P(LYM) = 3.89×10(-8), OR = 1.29) and rs948562 (P(LYM) = 5.85×10(-7), OR = 1.29). A SNP in a novel non-HLA region on 6p23 (rs707824, P(NHL) = 5.72×10(-7)) was suggestive of an association conferring susceptibility to lymphoma. Four SNPs, all in a previously reported HLA region, 6p21.32, showed genome-wide significant associations with follicular lymphoma. The most significant association with follicular lymphoma was for rs4530903 (P(FL) = 2.69×10(-12), OR = 1.93). Three novel SNPs near the HLA locus, rs9268853, rs2647046, and rs2621416, demonstrated additional variation contributing toward genetic susceptibility to FL associated with this region. Genes implicated by GWAS were also found to be cis-eQTLs in lymphoblastoid cell lines; candidate genes in these regions have been implicated in hematopoiesis and immune function. These results, showing novel susceptibility regions and allelic heterogeneity, point to the existence of pathways of susceptibility to both shared as well as specific subtypes of lymphoid malignancy.

Indexed as

Genetic Predisposition to DiseaseGenome-Wide Association StudyQuantitative Trait LociAllelesCell Line, TumorChromosomes, Human, Pair 11Gene ExpressionHumansLeukemia, LymphoidLymphoma, FollicularPolymorphism, Single Nucleotide

Identifiers

PMID23349640
PMCPMC3547842
OpenAlexW1993274125

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.