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Selected Works of Charalampos Papachristou
Article
Investigating multiple sclerosis genetic susceptibility on the founder population of east-central Sardinia via association and linkage analysis of immune-related loci
Multiple Sclerosis Journal (2017)
  • Teresa Fazia, University of Pavia
  • Roberta Pastorino, University of Pavia
  • Luisa Foco, University of Pavia
  • Lide Han, University of Chicago
  • Mark Abney, University of Chicago
  • Ashley Beecham, University of Miami
  • Athena Hadjixenofontos, University of Miami
  • Hui Guo
  • Davide Gentilini
  • Charalampos Papachristou, Rowan University
  • Pier Paolo Bitti
  • Anna Ticca
  • Carlo Berzuini, University of Cambridge
  • Jacob L McCauley, University of Miami
  • Luisa Bernardinelli, University of Pavia
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Abstract
Background: A wealth of single-nucleotide polymorphisms (SNPs) responsible for multiple sclerosis (MS) susceptibility have been identified; however, they explain only a fraction of MS heritability. Objectives: We contributed to discovery of new MS susceptibility SNPs by studying a founder population with high MS prevalence. Methods: We analyzed ImmunoChip data from 15 multiplex families and 94 unrelated controls from the Nuoro Province, Sardinia, Italy. We tested each SNP for both association and linkage with MS, the linkage being explored in terms of identity-by-descent (IBD) sharing excess and using gene dropping to compute a corresponding empirical p-value. By targeting regions that are both associated and in linkage with MS, we increase chances of identifying interesting genomic regions. Results: We identified 486 MS-associated (p < 1 × 10–4) and 18,426 MS-linked (p < 0.05) SNPs. A total of 111 loci were both linked and associated with MS, 18 of them pointing to 14 non-major histocompatibility complex (MHC) genes, and 93 of them located in the MHC region. Conclusions: We discovered new suggestive signals and confirmed some previously identified ones. We believe this to represent a significant step toward an understanding of the genetic basis of MS.


Keywords
  • Multiple sclerosis,
  • identity-by-descent sharing,
  • association,
  • pedigree,
  • founder population
Disciplines
Publication Date
September 21, 2017
DOI
10.1177/1352458517732841
Citation Information
Teresa Fazia, Roberta Pastorino, Luisa Foco, Lide Han, et al.. "Investigating multiple sclerosis genetic susceptibility on the founder population of east-central Sardinia via association and linkage analysis of immune-related loci" Multiple Sclerosis Journal (2017)
Available at: http://works.bepress.com/charalampos-papachristou/5/