Evidence map›Paper›PMID 23791106›Full record

ArticleAmerican journal of human genetics2013

Coding variants at hexa-allelic amino acid 13 of HLA-DRB1 explain independent SNP associations with follicular lymphoma risk.

Jia Nee Foo, Karin E Smedby, Nicholas K Akers, Mattias Berglund, Ishak D Irwan, Xiaoming Jia, Yi Li, Lucia Conde, Hatef Darabi, Paige M Bracci and 11 more

Open access · bronzeAbstract read
In one paragraph

Article in American journal of human genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
16citing papers in PubMed, 1 pooled it
2.8field-weighted citation impact, top 11% 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

16 citing papers in PubMed, 1 synthesis or guideline pooled it, 26 citations in OpenAlex.

  1. Pooled it
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  6. Association Analysis of the MHC in Lupus Nephritis.Journal of the American Society of Nephrology : JASN · 2017
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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

21 authors at 12 institutions in 5 countries.

Jia Nee FooHuman Genetics, Genome Institute of Singapore, Agency for Science, Technology, and Research, Singapore 138672, Singapore.
Karin E Smedby
Nicholas K Akers
Mattias Berglund
Ishak D Irwan
Xiaoming Jia
Yi Li
Lucia Conde
Hatef Darabi
Paige M Bracci
Mads Melbye
Hans-Olov Adami
Bengt Glimelius
Chiea Chuen Khor
Henrik Hjalgrim
Leonid Padyukov
Keith Humphreys
Gunilla Enblad
Christine F Skibola
Paul I W de Bakker
Jianjun Liu
Karolinska Institutet · SEUppsala University · SEGenome Institute of Singapore · SGHarvard University · USStatens Serum Institut · DKUniversity of Alabama at Birmingham · USAgency for Science, Technology and Research · SGKarolinska University Hospital · SENational University Health System · SGNational University of Singapore · SGUniversity of California, Berkeley · USUniversity of California, San Francisco · US

Funding

A Genome-Wide Association Study of Non-Hodgkin LymphomaR01CA122663 · NCI · UNIVERSITY OF CALIFORNIA BERKELEY · PI SKIBOLA, CHRISTINE F. · 2006 to 2010
$2.7M
Genetic Susceptibility to Non-Hodgkins LymphomaR01CA104682 · NCI · UNIVERSITY OF CALIFORNIA BERKELEY · PI SKIBOLA, CHRISTINE F. · 2003 to 2012
$2.6M
Resequencing and Functional Studies to Identify Causal Gene Variants of LymphomaR01CA154643 · NCI · UNIVERSITY OF CALIFORNIA BERKELEY · PI ZHANG, JIANQING · 2011 to 2014
$2.4M
DETERMINANTS OF THE SECULAR INCREASE IN NHLR01CA069269 · NCI · STATENS SERUM INSTITUT · PI MELBYE, MADS · 1998 to 2000
$644k
EPIDEMIOLOGY OF NON HODGKINS'S LYMPHOMA DATA ANALYSISR03CA089745 · NCI · UNIVERSITY OF CALIFORNIA SAN FRANCISCO · PI HOLLY, ELIZABETH A. · 2001 to 2002
$148k
EPIDEMIOLOGY OF NON-HODGKIN'S LYMPHOMA &RETROVIRAL TESTR01CA045614 · NCI · UNIVERSITY OF CALIFORNIA SAN FRANCISCO · PI HOLLY, ELIZABETH A. · 1988 to 1992
–
NCI NIH HHS CA069269-01NCI NIH HHS CA104682NCI NIH HHS CA122663NCI NIH HHS CA89745NCI NIH HHS R01 CA045614NCI NIH HHS R01 CA104682NCI NIH HHS R01 CA122663NCI NIH HHS R01 CA154643NCI NIH HHS R03 CA089745
6 · The paper itself

Abstract

Non-Hodgkin lymphoma represents a diverse group of blood malignancies, of which follicular lymphoma (FL) is a common subtype. Previous genome-wide association studies (GWASs) have identified in the human leukocyte antigen (HLA) class II region multiple independent SNPs that are significantly associated with FL risk. To dissect these signals and determine whether coding variants in HLA genes are responsible for the associations, we conducted imputation, HLA typing, and sequencing in three independent populations for a total of 689 cases and 2,446 controls. We identified a hexa-allelic amino acid polymorphism at position 13 of the HLA-DR beta chain that showed the strongest association with FL within the major histocompatibility complex (MHC) region (multiallelic p = 2.3 × 10⁻¹⁵). Out of six possible amino acids that occurred at that position within the population, we classified two as high risk (Tyr and Phe), two as low risk (Ser and Arg), and two as moderate risk (His and Gly). There was a 4.2-fold difference in risk (95% confidence interval = 2.9-6.1) between subjects carrying two alleles encoding high-risk amino acids and those carrying two alleles encoding low-risk amino acids (p = 1.01 × 10⁻¹⁴). This coding variant might explain the complex SNP associations identified by GWASs and suggests a common HLA-DR antigen-driven mechanism for the pathogenesis of FL and rheumatoid arthritis.

Indexed as

AllelesPolymorphism, Single NucleotideAmino AcidsCase-Control StudiesConfidence IntervalsGene FrequencyGenetic Association StudiesGenetic Predisposition to DiseaseGenetics, PopulationHaplotypesHistocompatibility TestingHLA-DRB1 ChainsHumansLymphoma, FollicularOpen Reading FramesRisk FactorsAmino AcidsHLA-DRB1 Chains

Identifiers

PMID23791106
PMCPMC3710749
OpenAlexW2009383063

What OpenQuestion holds

Textmetadata
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.