Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
2011-1-12
pubmed:abstractText
Richter syndrome (RS) represents the transformation of chronic lymphocytic leukaemia (CLL) to aggressive lymphoma. Risk factors of CLL transformation to RS are only partly known. We explored the role of the host genetic background as a risk factor for RS occurrence. Forty-five single nucleotide polimorphisms (SNPs) known to be relevant for CLL prognosis were genotyped in a consecutive cohort of 331 CLL, of which 21 had transformed to RS. After correcting for multiple testing and adjusting for previously reported RS risk factors, the LRP4 rs2306029 TT variant genotype was the sole SNP independently associated with a higher risk of RS transformation (Hazard Ratio: 4·17; P = 0·001; q = 0·047). The enrichment of LRP4 TT genotype in RS was confirmed in an independent series (n = 44) used for validation purposes. The LRP4 protein was expressed in CLL (n =66). Bioinformatic analysis scored LRP4 rs2306029 as a variant with possible deleterious and damaging variant of LRP4. LRP4 genotyping may help the recognition of patients with increased risk of RS at the time of CLL diagnosis.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Feb
pubmed:issn
1365-2141
pubmed:author
pubmed:copyrightInfo
© 2010 Blackwell Publishing Ltd.
pubmed:issnType
Electronic
pubmed:volume
152
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
284-94
pubmed:meshHeading
pubmed-meshheading:21121903-Aged, pubmed-meshheading:21121903-Amino Acid Sequence, pubmed-meshheading:21121903-Animals, pubmed-meshheading:21121903-Disease Progression, pubmed-meshheading:21121903-Epidemiologic Methods, pubmed-meshheading:21121903-Female, pubmed-meshheading:21121903-Genetic Predisposition to Disease, pubmed-meshheading:21121903-Genotype, pubmed-meshheading:21121903-Humans, pubmed-meshheading:21121903-LDL-Receptor Related Proteins, pubmed-meshheading:21121903-Leukemia, Lymphocytic, Chronic, B-Cell, pubmed-meshheading:21121903-Lymphoma, pubmed-meshheading:21121903-Male, pubmed-meshheading:21121903-Middle Aged, pubmed-meshheading:21121903-Molecular Sequence Data, pubmed-meshheading:21121903-Neoplasm Proteins, pubmed-meshheading:21121903-Polymorphism, Single Nucleotide, pubmed-meshheading:21121903-Prognosis, pubmed-meshheading:21121903-Sequence Alignment, pubmed-meshheading:21121903-Syndrome
pubmed:year
2011
pubmed:articleTitle
A variant of the LRP4 gene affects the risk of chronic lymphocytic leukaemia transformation to Richter syndrome.
pubmed:affiliation
Division of Haematology, Department of Clinical and Experimental Medicine & IRCAD, Amedeo Avogadro University of Eastern Piedmont, Novara, Italy.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't, Multicenter Study