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  • Da Silva Filho, M. I.German Cancer Research Centre (author)

Genome-wide association study of immunoglobulin light chain amyloidosis in three patient cohorts : Comparison with myeloma

  • Article/chapterEnglish2017

Publisher, publication year, extent ...

  • 2016-12-27
  • Springer Science and Business Media LLC,2017
  • 8 s.

Numbers

  • LIBRIS-ID:oai:lup.lub.lu.se:467dc134-08d1-481d-8041-4e576bf4283e
  • https://lup.lub.lu.se/record/467dc134-08d1-481d-8041-4e576bf4283eURI
  • https://doi.org/10.1038/leu.2016.387DOI

Supplementary language notes

  • Language:English
  • Summary in:English

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  • Subject category:art swepub-publicationtype
  • Subject category:ref swepub-contenttype

Notes

  • Immunoglobulin light chain (AL) amyloidosis is characterized by tissue deposition of amyloid fibers derived from immunoglobulin light chain. AL amyloidosis and multiple myeloma (MM) originate from monoclonal gammopathy of undetermined significance. We wanted to characterize germline susceptibility to AL amyloidosis using a genome-wide association study (GWAS) on 1229 AL amyloidosis patients from Germany, UK and Italy, and 7526 healthy local controls. For comparison with MM, recent GWAS data on 3790 cases were used. For AL amyloidosis, single nucleotide polymorphisms (SNPs) at 10 loci showed evidence of an association at P<10 -5 with homogeneity of results from the 3 sample sets; some of these were previously documented to influence MM risk, including the SNP at the IRF4 binding site. In AL amyloidosis, rs9344 at the splice site of cyclin D1, promoting translocation (11;14), reached the highest significance, P=7.80 × 10 -11; the SNP was only marginally significant in MM. SNP rs79419269 close to gene SMARCD3 involved in chromatin remodeling was also significant (P=5.2 × 10 -8). These data provide evidence for common genetic susceptibility to AL amyloidosis and MM. Cyclin D1 is a more prominent driver in AL amyloidosis than in MM, but the links to aggregation of light chains need to be demonstrated.

Subject headings and genre

Added entries (persons, corporate bodies, meetings, titles ...)

  • Försti, A.Lund University,Lunds universitet,Allmänmedicin och klinisk epidemiologi,Forskargrupper vid Lunds universitet,Family Medicine and Clinical Epidemiology,Lund University Research Groups,German Cancer Research Centre(Swepub:lu)med-asf (author)
  • Weinhold, N.Heidelberg University,University of Arkansas for Medical Sciences (author)
  • Meziane, I.German Cancer Research Centre(Swepub:lu)med-imi (author)
  • Campo, C.German Cancer Research Centre (author)
  • Huhn, S.Heidelberg University (author)
  • Nickel, J.Heidelberg University (author)
  • Hoffmann, P.University of Basel,University of Bonn (author)
  • Nöthen, M. M.University of Bonn (author)
  • Jöckel, K. H.University Hospital Essen,University of Duisburg-Essen (author)
  • Landi, S.University of Pisa (author)
  • Mitchell, J. S.Institute of Cancer Research London (author)
  • Johnson, D.Institute of Cancer Research London (author)
  • Morgan, G. J.University of Arkansas for Medical Sciences (author)
  • Houlston, R.Institute of Cancer Research London (author)
  • Goldschmidt, H.Heidelberg University,National Centre of Tumor Diseases (author)
  • Jauch, A.Heidelberg University (author)
  • Milani, P.University of Pavia (author)
  • Merlini, G.University of Pavia (author)
  • Rowcieno, D.University College London (author)
  • Hawkins, P.University College London (author)
  • Hegenbart, U.Heidelberg University (author)
  • Palladini, G.University of Pavia (author)
  • Wechalekar, A.University College London (author)
  • Schönland, S. O.Heidelberg University (author)
  • Hemminki, K.Lund University,Lunds universitet,Allmänmedicin och klinisk epidemiologi,Forskargrupper vid Lunds universitet,Family Medicine and Clinical Epidemiology,Lund University Research Groups,German Cancer Research Centre(Swepub:lu)med-khk (author)
  • German Cancer Research CentreAllmänmedicin och klinisk epidemiologi (creator_code:org_t)

Related titles

  • In:Leukemia: Springer Science and Business Media LLC31:8, s. 1735-17420887-69241476-5551

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