• English
    • íslenska
  • English 
    • English
    • íslenska
  • Login
View Item 
  •   Home
  • Journal Articles, Peer Reviewed (Ritrýndar vísindagreinar)
  • English Journal Articles (Peer Reviewed)
  • View Item
  •   Home
  • Journal Articles, Peer Reviewed (Ritrýndar vísindagreinar)
  • English Journal Articles (Peer Reviewed)
  • View Item
JavaScript is disabled for your browser. Some features of this site may not work without it.

Browse

All of HirslaCommunitiesAuthorsTitleSubjectsSubject (MeSH)Issue DateJournalThis CollectionAuthorsTitleSubjectsSubject (MeSH)Issue DateJournal

My Account

LoginRegister

Local Links

FAQ - (Icelandic)FAQ - (English)Hirsla LogosAbout LandspitaliLSH Home PageLibrary HomeIcelandic Journals

Statistics

Display statistics

Inherited polymorphisms in hyaluronan synthase 1 predict risk of systemic B-cell malignancies but not of breast cancer.

  • CSV
  • RefMan
  • EndNote
  • BibTex
  • RefWorks
Thumbnail
Name:
journal.pone.0100691.pdf
Size:
419.1Kb
Format:
PDF
Download
Average rating
 
   votes
Cast your vote
You can rate an item by clicking the amount of stars they wish to award to this item. When enough users have cast their vote on this item, the average rating will also be shown.
Star rating
 
Your vote was cast
Thank you for your feedback
Authors
Kuppusamy, Hemalatha
Ogmundsdottir, Helga M
Baigorri, Eva
Warkentin, Amanda
Steingrimsdottir, Hlif
Haraldsdottir, Vilhelmina
Mant, Michael J
Mackey, John
Johnston, James B
Adamia, Sophia
Belch, Andrew R
Pilarski, Linda M
Show allShow less
Issue Date
2014

Metadata
Show full item record
Citation
PLoS ONE 2014, 9 (6):e100691
Abstract
Genetic variations in the hyaluronan synthase 1 gene (HAS1) influence HAS1 aberrant splicing. HAS1 is aberrantly spliced in malignant cells from multiple myeloma (MM) and Waldenstrom macroglobulinemia (WM), but not in their counterparts from healthy donors. The presence of aberrant HAS1 splice variants predicts for poor survival in multiple myeloma (MM). We evaluated the influence of inherited HAS1 single nucleotide polymorphisms (SNP) on the risk of having a systemic B cell malignancy in 1414 individuals compromising 832 patients and 582 healthy controls, including familial analysis of an Icelandic kindred. We sequenced HAS1 gene segments from 181 patients with MM, 98 with monoclonal gammopathy of undetermined significance (MGUS), 72 with Waldenstrom macroglobulinemia (WM), 169 with chronic lymphocytic leukemia (CLL), as well as 34 members of a monoclonal gammopathy-prone Icelandic family, 212 age-matched healthy donors and a case-control cohort of 295 breast cancer patients with 353 healthy controls. Three linked single nucleotide polymorphisms (SNP) in HAS1 intron3 are significantly associated with B-cell malignancies (range p = 0.007 to p = 10(-5)), but not MGUS or breast cancer, and predict risk in a 34 member Icelandic family (p = 0.005, Odds Ratio = 5.8 (OR)), a relatively homogeneous cohort. In contrast, exon3 SNPs were not significantly different among the study groups. Pooled analyses showed a strong association between the linked HAS1 intron3 SNPs and B-cell malignancies (OR = 1.78), but not for sporadic MGUS or for breast cancer (OR<1.0). The minor allele genotypes of HAS1 SNPs are significantly more frequent in MM, WM, CLL and in affected members of a monoclonal gammopathy-prone family than they are in breast cancer, sporadic MGUS or healthy donors. These inherited changes may increase the risk for systemic B-cell malignancies but not for solid tumors.
Description
To access publisher's full text version of this article, please click on the hyperlink in Additional Links field or click on the hyperlink at the top of the page marked Files. This article is open access.
Additional Links
http://dx.doi.org/10.1371/journal.pone.0100691
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4065063/
Rights
openAccess
ae974a485f413a2113503eed53cd6c53
10.1371/journal.pone.0100691
Scopus Count
Collections
English Journal Articles (Peer Reviewed)

entitlement

Related articles

  • Inherited and acquired variations in the hyaluronan synthase 1 (HAS1) gene may contribute to disease progression in multiple myeloma and Waldenstrom macroglobulinemia.
  • Authors: Adamia S, Reichert AA, Kuppusamy H, Kriangkum J, Ghosh A, Hodges JJ, Pilarski PM, Treon SP, Mant MJ, Reiman T, Belch AR, Pilarski LM
  • Issue date: 2008 Dec 15
  • Potential impact of a single nucleotide polymorphism in the hyaluronan synthase 1 gene in Waldenstrom's macroglobulinemia.
  • Authors: Adamia S, Treon SP, Reiman T, Tournilhac O, McQuarrie C, Mant MJ, Belch AR, Pilarski LM
  • Issue date: 2005 Mar
  • Genetic abnormalities in Waldenström's macroglobulinemia.
  • Authors: Adamia S, Pilarski PM, Belch AR, Pilarski LM
  • Issue date: 2009 Mar
  • Familial paraproteinemia: hyper-responsive B-cells as endophenotype.
  • Authors: Ögmundsdóttir HM, Steingrímsdóttir H, Haraldsdóttir V
  • Issue date: 2011 Feb
  • Intronic splicing of hyaluronan synthase 1 (HAS1): a biologically relevant indicator of poor outcome in multiple myeloma.
  • Authors: Adamia S, Reiman T, Crainie M, Mant MJ, Belch AR, Pilarski LM
  • Issue date: 2005 Jun 15

DSpace software (copyright © 2002 - 2021)  DuraSpace
Quick Guide | Contact Us
Open Repository is a service operated by 
Atmire NV
 

Export search results

The export option will allow you to export the current search results of the entered query to a file. Different formats are available for download. To export the items, click on the button corresponding with the preferred download format.

By default, clicking on the export buttons will result in a download of the allowed maximum amount of items.

To select a subset of the search results, click "Selective Export" button and make a selection of the items you want to export. The amount of items that can be exported at once is similarly restricted as the full export.

After making a selection, click one of the export format buttons. The amount of items that will be exported is indicated in the bubble next to export format.