Evidence map›Paper›PMID 20159113›Full record

ArticleAmerican journal of human genetics2010

Genome-wide association study in a high-risk isolate for multiple sclerosis reveals associated variants in STAT3 gene.

Eveliina Jakkula, Virpi Leppä, Anna-Maija Sulonen, Teppo Varilo, Suvi Kallio, Anu Kemppinen, Shaun Purcell, Keijo Koivisto, Pentti Tienari, Marja-Liisa Sumelahti and 19 more

Open access · bronzeAbstract read
In one paragraph

Article in American journal of human genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 116 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
116citing papers in PubMed, 3 pooled it
10.6field-weighted citation impact, top 1% 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

116 citing papers in PubMed, 3 syntheses or guidelines pooled it, 246 citations in OpenAlex.

  1. Pooled it
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  15. Activation pathways that drive CD4Immunological reviews · 2022
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56 more citing papers are in PubMed but not listed here.

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

29 authors at 17 institutions in 7 countries.

Eveliina JakkulaInstitute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland.
Virpi Leppä
Anna-Maija Sulonen
Teppo Varilo
Suvi Kallio
Anu Kemppinen
Shaun Purcell
Keijo Koivisto
Pentti Tienari
Marja-Liisa Sumelahti
Irina Elovaara
Tuula Pirttilä
Mauri Reunanen
Arpo Aromaa
Annette Bang Oturai
Helle Bach Søndergaard
Hanne F Harbo
Inger-Lise Mero
Stacey B Gabriel
Daniel B Mirel
Stephen L Hauser
Ludwig Kappos
Chris Polman
Philip L De Jager
David A Hafler
Mark J Daly
Aarno Palotie
Janna Saarela
Leena Peltonen
University of Helsinki · FIBroad Institute · USInstitute for Molecular Medicine Finland · FIFinnish Institute for Health and Welfare · FIHarvard University · USUniversity of Oslo · NOCenter for Human Genetics · USCopenhagen University Hospital · DKDanish Multiple Sclerosis Center · DKKuopio University Hospital · FIOulu University Hospital · FISeinäjoki University of Applied Sciences · FITampere University · FITampere University Hospital · FIUniversity of Basel · CHUniversity of California, San Francisco · USVrije Universiteit Amsterdam · NL

Funding

AN NCRR CENTER FOR HIGH THROUGHPUT SNP GENOTYPING AND ANALYSIS: GAIN NETWORKU54RR020278 · NCRR · MASSACHUSETTS INSTITUTE OF TECHNOLOGY · PI GABRIEL, STACEY · 2004 to 2008
$14.4M
Isolation of Autism susceptibility genesR01MH071425 · NIMH · DECODE GENETICS, INC. · PI STEFANSSON, KARI · 2006 to 2011
$2.9M
Genetic loci predisposing to multiple sclerosis (MS)R01NS043559 · NINDS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI PELTONEN, LEENA · 2002 to 2005
$984k
NCRR NIH HHS U54 RR020278NIMH NIH HHS R01 MH071425NINDS NIH HHS R01 NS043559NINDS NIH HHS R01 NS 43559Wellcome TrustWellcome Trust 089061/Z/09/Z
6 · The paper itself

Abstract

Genetic risk for multiple sclerosis (MS) is thought to involve both common and rare risk alleles. Recent GWAS and subsequent meta-analysis have established the critical role of the HLA locus and identified new common variants associated to MS. These variants have small odds ratios (ORs) and explain only a fraction of the genetic risk. To expose potentially rare, high-impact alleles, we conducted a GWAS of 68 distantly related cases and 136 controls from a high-risk internal isolate of Finland with increased prevalence and familial occurrence of MS. The top 27 loci with p < 10(-4) were tested in 711 cases and 1029 controls from Finland, and the top two findings were validated in 3859 cases and 9110 controls from more heterogeneous populations. SNP (rs744166) within the STAT3 gene was associated to MS (p = 2.75 x 10(-10), OR 0.87, confidence interval 0.83-0.91). The protective haplotype for MS in STAT3 is a risk allele for Crohn disease, implying that STAT3 represents a shared risk locus for at least two autoimmune diseases. This study also demonstrates the potential of special isolated populations in search for variants contributing to complex traits.

Indexed as

Genetic Predisposition to DiseaseGenome-Wide Association StudyAllelesBase PairingCase-Control StudiesGenetics, PopulationHaplotypesHumansLinkage DisequilibriumMultiple SclerosisPolymorphism, Single NucleotideReproducibility of ResultsSTAT3 Transcription FactorSTAT3 protein, humanSTAT3 Transcription Factor

Identifiers

PMID20159113
PMCPMC2820168
OpenAlexW2097780447

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.