Genome-wide association study of multiple sclerosis confirms a novel locus at 5p13.1.

PloS One
Fuencisla MatesanzGuillermo Izquierdo

Abstract

Multiple Sclerosis (MS) is the most common progressive and disabling neurological condition affecting young adults in the world today. From a genetic point of view, MS is a complex disorder resulting from the combination of genetic and non-genetic factors. We aimed to identify previously unidentified loci conducting a new GWAS of Multiple Sclerosis (MS) in a sample of 296 MS cases and 801 controls from the Spanish population. Meta-analysis of our data in combination with previous GWAS was done. A total of 17 GWAS-significant SNPs, corresponding to three different loci were identified:HLA, IL2RA, and 5p13.1. All three have been previously reported as GWAS-significant. We confirmed our observation in 5p13.1 for rs9292777 using two additional independent Spanish samples to make a total of 4912 MS cases and 7498 controls (ORpooled = 0.84; 95%CI: 0.80-0.89; p = 1.36 × 10-9). This SNP differs from the one reported within this locus in a recent GWAS. Although it is unclear whether both signals are tapping the same genetic association, it seems clear that this locus plays an important role in the pathogenesis of MS.

References

Mar 1, 1983·Annals of Neurology·C M PoserW W Tourtellotte
Aug 29, 2001·Bioinformatics·G R AbecasisL R Cardon
Oct 18, 2001·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·G Rosati
Jun 5, 2002·Genome Research·W James KentDavid Haussler
Dec 30, 2006·PLoS Genetics·Nick PattersonDavid Reich
Jan 26, 2007·Annals of Neurology·Tai Wai YeoStephen Sawcer
Jun 8, 2007·Nature·UNKNOWN Wellcome Trust Case Control Consortium
Jul 31, 2007·The New England Journal of Medicine·UNKNOWN International Multiple Sclerosis Genetics ConsortiumStephen L Hauser
Sep 18, 2007·Nature Genetics·Barbara E StrangerEmmanouil T Dermitzakis
Sep 18, 2007·Nature Genetics·Anna L DixonWilliam O C Cookson
Jun 11, 2008·Nature Reviews. Genetics·Jorge R OksenbergStephen L Hauser
Nov 1, 2008·Bioinformatics·Andrew D JohnsonPaul I W de Bakker
Nov 18, 2008·Human Molecular Genetics·Sergio E BaranziniJorge R Oksenberg
Aug 1, 2009·Science·Antigone S DimasStylianos E Antonarakis
Sep 25, 2009·Seminars in Immunology·R L ZuvichJ L Haines
Dec 4, 2009·Genes and Immunity·J D CooperUNKNOWN Type I Diabetes Genetics Consortium
Dec 5, 2009·Journal of Human Genetics·Takeshi OtowaTsukasa Sasaki
May 11, 2010·Nature Genetics·Serena SannaFrancesco Cucca
May 27, 2010·BMC Genomics·Javier GayánManuel Serrano-Ríos
Jun 23, 2010·Proceedings of the National Academy of Sciences of the United States of America·Yoshiyasu EsakiShuh Narumiya
Nov 9, 2010·Genetic Epidemiology·Yun LiGonçalo R Abecasis
Aug 13, 2011·Nature·UNKNOWN International Multiple Sclerosis Genetics ConsortiumAlastair Compston

❮ Previous
Next ❯

Citations

Apr 25, 2013·PloS One·Ekaterina Alekseevna SokolovaMaxim Leonidovich Filipenko
Feb 2, 2013·Expert Review of Neurotherapeutics·Adam E HandelSreeram V Ramagopalan
Sep 24, 2013·Expert Review of Neurotherapeutics·Arjan Malekzadeh, Charlotte Teunissen
Dec 7, 2013·Expert Review of Neurotherapeutics·Jorge R Oksenberg
Feb 11, 2015·Clinica Chimica Acta; International Journal of Clinical Chemistry·Alessandro Didonna, Jorge R Oksenberg
Jun 18, 2014·Journal of Autoimmunity·Sonia Berrih-Aknin
Apr 19, 2015·Current Opinion in Neurology·Sudhir K YadavSuhayl Dhib-Jalbut
Nov 14, 2014·Multiple Sclerosis : Clinical and Laboratory Research·Mercedes Delgado-GarcíaMiguel Lucas
Feb 15, 2018·Cold Spring Harbor Perspectives in Medicine·Nikolaos A Patsopoulos
Nov 2, 2018·British Journal of Pharmacology·Chengcan Yao, Shuh Narumiya
Dec 29, 2018·Journal of Interferon & Cytokine Research : the Official Journal of the International Society for Interferon and Cytokine Research·Martin VališZbyšek Pavelek
Mar 7, 2019·Frontiers in Neurology·Sara La StarzaMarco Salvetti
Jan 9, 2019·Frontiers in Genetics·Elvezia Maria ParaboschiRosanna Asselta
Jun 23, 2019·Scientific Reports·Luis Miguel RealUNKNOWN GEHEP 012 study group
Apr 4, 2021·Multiple Sclerosis and Related Disorders·Fan GeWenhua Liang
Jun 6, 2021·European Journal of Human Genetics : EJHG·Catriona L K BarnesJames F Wilson

❮ Previous
Next ❯

Datasets Mentioned

BETA
E-MTAB-198

Methods Mentioned

BETA
PCA
genotyping
PCR
Assay

Software Mentioned

UCSC browser
EIGENSOFT
MaCH
R
Affymetrix Genotyping Console
Genetranssoc
PLINK
Stata
SMARTPCA
SNAP

Related Concepts

Related Feeds

Autoimmune Diseases

Autoimmune diseases occur as a result of an attack by the immune system on the body’s own tissues resulting in damage and dysfunction. There are different types of autoimmune diseases, in which there is a complex and unknown interaction between genetics and the environment. Discover the latest research on autoimmune diseases here.