Research
Print page Print page
Switch language
Rigshospitalet - a part of Copenhagen University Hospital
Published

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

Research output: Contribution to journalJournal articleResearchpeer-review

  1. Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Associations of Mitochondrial and Nuclear Mitochondrial Variants and Genes with Seven Metabolic Traits

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Recurrent, Activating Variants in the Receptor Tyrosine Kinase DDR2 Cause Warburg-Cinotti Syndrome

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. Estimation of Genetic Correlation via Linkage Disequilibrium Score Regression and Genomic Restricted Maximum Likelihood

    Research output: Contribution to journalJournal articleResearchpeer-review

  1. Alcohol consumption in adolescence is associated with a lower risk of multiple sclerosis in a Danish cohort

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Serum and cerebrospinal fluid neurofilament levels predict longitudinal atrophy of the cervical spinal cord in progressive MS

    Research output: Contribution to journalConference abstract in journalResearchpeer-review

  3. Evidence for oestrogen sensitivity in perinatal depression: pharmacological sex hormone manipulation study

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. Illegal cannabis use is common among Danes with multiple sclerosis

    Research output: Contribution to journalJournal articleResearchpeer-review

  • Eveliina Jakkula
  • 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 Harbo Hansen
  • 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
View graph of relations
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.
Original languageEnglish
JournalAmerican Journal of Human Genetics
Volume86
Issue number2
Pages (from-to)285-91
Number of pages7
ISSN0002-9297
DOIs
Publication statusPublished - 12 Feb 2010

ID: 32299103