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rs2072135, a low-pe...
rs2072135, a low-penetrance variant for chronic lymphocytic leukaemia?
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Sava, Georgina P. (author)
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Speedy, Helen E. (author)
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Di Bernardo, Maria Chiara (author)
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Deaglio, Silvia (author)
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Karabon, Lidia (author)
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Frydecka, Irena (author)
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Woszczyk, Dariusz (author)
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Rossi, Davide (author)
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Gaidano, Gianluca (author)
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- Mansouri, Larry (author)
- Uppsala universitet,Hematologi och immunologi
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- Smedby, Karin E. (author)
- Karolinska Institutet
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- 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
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- Rosenquist, Richard (author)
- Uppsala universitet,Hematologi och immunologi
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Catovsky, Daniel (author)
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Houlston, Richard S. (author)
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(creator_code:org_t)
- 2013-05-14
- 2013
- English.
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In: British Journal of Haematology. - : Wiley. - 0007-1048 .- 1365-2141. ; 162:2, s. 221-228
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http://dx.doi.org/10...
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Abstract
Subject headings
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- Recent multi-stage genome-wide association studies (GWAS) have identified single nucleotide polymorphisms (SNPs) that are robustly associated with chronic lymphocytic leukaemia (CLL) risk. Given that most of these SNPs map to non-coding regions of the genome, it suggests that the functional basis of many GWAS signals will be through differential gene expression. By referencing publically accessible expression quantitative trait loci (eQTL) data on lymphoblastoid cells lines (LCLs) we have globally demonstrated an association between GWAS P-values and eQTLs, consistent with much of the variation in CLL risk being defined by variants impacting on gene expression. To explore using eQTL data to select GWAS SNPs for replication, we genotyped rs2072135 (GWAS P-value=00024, eQTL P-value=1510(-19)) in five independent case-control series totalling 1968 cases and 3538 controls. While not attaining statistical significance (combined P-value=1x10(-4)), rs2072135 defines a promising risk locus for CLL. Incorporating eQTL information offers an attractive strategy for selecting SNPs from GWAS for validation.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Hematologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Hematology (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Cancer och onkologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Cancer and Oncology (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Keyword
- chronic lymphocytic leukaemia
- risk
- polymorphism
- gene expression
- chronic lymphocytic leukaemia
- risk
- polymorphism
- gene expression
Publication and Content Type
- ref (subject category)
- art (subject category)
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- By the author/editor
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Sava, Georgina P ...
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Speedy, Helen E.
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Di Bernardo, Mar ...
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Deaglio, Silvia
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Karabon, Lidia
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Frydecka, Irena
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show more...
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Woszczyk, Darius ...
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Rossi, Davide
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Gaidano, Gianluc ...
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Mansouri, Larry
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Smedby, Karin E.
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Juliusson, Gunna ...
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Rosenquist, Rich ...
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Catovsky, Daniel
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Houlston, Richar ...
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show less...
- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Hematology
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Cancer and Oncol ...
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Medical Genetics
- Articles in the publication
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British Journal ...
- By the university
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Uppsala University
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Lund University
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Karolinska Institutet