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A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia

Speedy, Helen E. (author)
Di Bernardo, Maria Chiara (author)
Sava, Georgina P. (author)
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Dyer, Martin J. S. (author)
Holroyd, Amy (author)
Wang, Yufei (author)
Sunter, Nicola J. (author)
Mansouri, Larry (author)
Uppsala universitet,Hematologi och immunologi
Juliusson, Gunnar (author)
Lund University,Lunds universitet,Stamcellscentrum (SCC),Avdelningen för stamcellsforskning,Institutionen för laboratoriemedicin,Medicinska fakulteten,Stem Cell Center,Division of stem cell research,Department of Laboratory Medicine,Faculty of Medicine
Smedby, Karin E. (author)
Karolinska Institutet
Roos, Göran (author)
Umeå universitet,Patologi
Jayne, Sandrine (author)
Majid, Aneela (author)
Dearden, Claire (author)
Hall, Andrew G. (author)
Mainou-Fowler, Tryfonia (author)
Jackson, Graham H. (author)
Summerfield, Geoffrey (author)
Harris, Robert J. (author)
Rosenquist, Richard (author)
Uppsala universitet,Hematologi och immunologi
Allsup, David J. (author)
Bailey, James R. (author)
Pratt, Guy (author)
Pepper, Chris (author)
Fegan, Chris (author)
Rosenquist, Richard (author)
Uppsala universitet,Hematologi och immunologi
Catovsky, Daniel (author)
Allan, James M. (author)
Houlston, Richard S. (author)
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 (creator_code:org_t)
2013-12-01
2014
English.
In: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 46:1, s. 56-
  • Journal article (peer-reviewed)
Abstract Subject headings
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  • Genome-wide association studies (GWAS) of chronic lymphocytic leukemia (CLL) have shown that common genetic variation contributes to the heritable risk of CLL. To identify additional CLL susceptibility loci, we conducted a GWAS and performed a meta-analysis with a published GWAS totaling 1,739 individuals with CLL (cases) and 5,199 controls with validation in an additional 1,144 cases and 3,151 controls. A combined analysis identified new susceptibility loci mapping to 3q26.2 (rs10936599, P = 1.74 x 10(-9)), 4q26 (rs6858698, P = 3.07 x 10(-9)), 6q25.2 (IPCEF1, rs2236256, P = 1.50 x 10(-10)) and 7q31.33 (POT1, rs17246404, P = 3.40 x 10(-8)). Additionally, we identified a promising association at 5p15.33 (CLPTM1L, rs31490, P = 1.72 x 10(-7)) and validated recently reported putative associations at 5p15.33 (TERT, rs10069690, P = 1.12 x 10(-10)) and 8q22.3 (rs2511714, P = 2.90 x 10(-9)). These findings provide further insights into the genetic and biological basis of inherited genetic susceptibility to CLL.

Subject headings

MEDICIN OCH HÄLSOVETENSKAP  -- Medicinska och farmaceutiska grundvetenskaper -- Cell- och molekylärbiologi (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Basic Medicine -- Cell and Molecular Biology (hsv//eng)
MEDICIN OCH HÄLSOVETENSKAP  -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Basic Medicine -- Medical Genetics (hsv//eng)
MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin -- Cancer och onkologi (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine -- Cancer and Oncology (hsv//eng)

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