Cited by 245Multiple Sclerosis Research StudiesGenetic Associations and EpidemiologyPsoriasis: Treatment and Pathogenesis

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Genome-wide Association Study in a High-Risk Isolate for Multiple Sclerosis Reveals Associated Variants in STAT3 Gene

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Jakkula, Eveliina, Leppä, Virpi, Sulonen, Anna-Maija, Varilo, Teppo, Kallio, Suvi, Kemppinen, Anu, Purcell, Shaun, Koivisto, Keijo, Tienari, Pentti, Sumelahti, Marja-Liisa, Elovaara, Irina, Pirttilä, Tuula, Reunanen, Mauri, Aromaa, Arpo, Oturai, Annette Bang, Søndergaard, Helle Bach, Harbo, Hanne F., Mero, Inger-Lise, Gabriel, Stacey B., Mirel, Daniel B., Hauser, Stephen L., Kappos, Ludwig, Polman, Chris, De Jager, Philip L., Hafler, David A., Daly, Mark J., Palotie, Aarno, Saarela, Janna, Peltonen, Leena·2010·The American Journal of Human Genetics

DOI 10.1016/j.ajhg.2010.01.017PMC PMC2820168

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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.

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Authors: Jakkula, E., Leppä, V., Sulonen, A.-M., Varilo, T., Kallio, S., Kemppinen, A., Purcell, S., Koivisto, K., Tienari, P., Sumelahti, M.-L., Elovaara, I., Pirttilä, T., Reunanen, M., Aromaa, A., Oturai, A. B., Søndergaard, H. B., Harbo, H. F., Mero, I.-L., Gabriel, S. B., Mirel, D. B., Hauser, S. L., Kappos, L., Polman, C., De Jager, P. L., Hafler, D. A., Daly, M. J., Palotie, A., Saarela, J., & Peltonen, L.
Affiliations: Broad Institute (US)
University of Helsinki (FI)
Seinäjoen Keskussairaala (FI)
Tampere University (FI)
Tampere University Hospital (FI)
Kuopio University Hospital (FI)
Oulu University Hospital (FI)
Finnish Institute for Health and Welfare (FI)
Copenhagen University Hospital (DK)
Oslo University Hospital (NO)
University of California, San Francisco (US)
University of Basel (CH)
Amsterdam UMC Location Vrije Universiteit Amsterdam (NL)
Brigham and Women's Hospital (US)
Corresponding author: Peltonen, Leena
ORCID: Jakkula, Eveliina
Leppä, Virpi
Sulonen, Anna-Maija
Varilo, Teppo
Kemppinen, Anu
Purcell, Shaun
Tienari, Pentti
Sumelahti, Marja-Liisa
Søndergaard, Helle Bach
Harbo, Hanne F.
Mero, Inger-Lise
Gabriel, Stacey B.
Hauser, Stephen L.
Kappos, Ludwig
Polman, Chris
Hafler, David A.
Daly, Mark J.
Palotie, Aarno
Saarela, Janna
Peltonen, Leena
Venue: The American Journal of Human Genetics
Publisher: Elsevier BV
Published: 2010-02
Volume: 86
Issue: 2
Pages: 285-291
ISSN: 0002-9297 (ISSN-L)
DOI: 10.1016/j.ajhg.2010.01.017
PMC: PMC2820168
OpenAlex: W2097780447
Cited by: 245
References: 56
Citations by year: 2026: 5 · 2025: 8 · 2024: 3 · 2023: 5 · 2022: 7 · 2021: 17 · 2020: 15 · 2019: 14 · 2018: 13 · 2017: 11 · 2016: 12 · 2015: 19 · 2014: 25 · 2013: 29 · 2012: 16
FWCI: 19.71
Type: journal article
Language: en
Open access: bronze
doi.org
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
www.elsevier.com/open-access/userlicense/1.0/ (vor, 1264 d)
Locations: The American Journal of Human Genetics (publishedVersion)
Europe PMC (PubMed Central) (publishedVersion)
PubMed Central (publishedVersion)
PubMed (publishedVersion)
Amsterdam UMC (VU Amsterdam) - Institutional Repository (publishedVersion)
Digital Academic REpository of VU University Amsterdam (Vrije Universiteit Amsterdam) (submittedVersion)
Pure Amsterdam UMC (submittedVersion)
Research at the University of Copenhagen (University of Copenhagen) (submittedVersion)
STM:n Hallinnonalan avoin julkaisuarkisto (Julkari) (submittedVersion)
Data Archiving and Networked Services (DANS) (submittedVersion)
Data Archiving and Networked Services (DANS) (submittedVersion, other-oa)
Funders: Wellcome Trust (089061/Z/09/Z)
National Institutes of Health (6u54rr020278-06)
National Institute of Mental Health (R01MH071425)
National Institute of Neurological Disorders and Stroke (R01NS43559, R01NS043559)
National Center for Research Resources (U54-RR020278)
Topics: Health Sciences › Medicine › Clinical Neurology › Multiple Sclerosis Research Studies
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
Life Sciences › Immunology and Microbiology › Immunology › Psoriasis: Treatment and Pathogenesis
Keywords: multiple sclerosis, genetic risk, rare variants, Finnish population, haplotypes, Crohn's disease, autoimmune disease, HLA locus
MeSH terms: Alleles, Genetics, Population, Haplotypes, Humans, Multiple Sclerosis, Reproducibility of Results, Linkage Disequilibrium, Case-Control Studies, Genetic Predisposition to Disease, Base Pairing, Polymorphism, Single Nucleotide, STAT3 Transcription Factor, Genome-Wide Association Study

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Genome-wide Association Study in a High-Risk Isolate for Multiple Sclerosis Reveals Associated Variants in STAT3 Gene

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