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A variant of the LRP4 gene affects the risk of chronic lymphocytic leukaemia transformation to Richter syndrome.

Publication ,  Journal Article
Rasi, S; Spina, V; Bruscaggin, A; Vaisitti, T; Tripodo, C; Forconi, F; De Paoli, L; Fangazio, M; Sozzi, E; Cencini, E; Laurenti, L; Marasca, R ...
Published in: British journal of haematology
February 2011

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.

Duke Scholars

Published In

British journal of haematology

DOI

EISSN

1365-2141

ISSN

0007-1048

Publication Date

February 2011

Volume

152

Issue

3

Start / End Page

284 / 294

Related Subject Headings

  • Syndrome
  • Sequence Alignment
  • Prognosis
  • Polymorphism, Single Nucleotide
  • Neoplasm Proteins
  • Molecular Sequence Data
  • Middle Aged
  • Male
  • Lymphoma
  • Leukemia, Lymphocytic, Chronic, B-Cell
 

Citation

APA
Chicago
ICMJE
MLA
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Rasi, S., Spina, V., Bruscaggin, A., Vaisitti, T., Tripodo, C., Forconi, F., … Rossi, D. (2011). A variant of the LRP4 gene affects the risk of chronic lymphocytic leukaemia transformation to Richter syndrome. British Journal of Haematology, 152(3), 284–294. https://doi.org/10.1111/j.1365-2141.2010.08482.x
Rasi, Silvia, Valeria Spina, Alessio Bruscaggin, Tiziana Vaisitti, Claudio Tripodo, Francesco Forconi, Lorenzo De Paoli, et al. “A variant of the LRP4 gene affects the risk of chronic lymphocytic leukaemia transformation to Richter syndrome.British Journal of Haematology 152, no. 3 (February 2011): 284–94. https://doi.org/10.1111/j.1365-2141.2010.08482.x.
Rasi S, Spina V, Bruscaggin A, Vaisitti T, Tripodo C, Forconi F, et al. A variant of the LRP4 gene affects the risk of chronic lymphocytic leukaemia transformation to Richter syndrome. British journal of haematology. 2011 Feb;152(3):284–94.
Rasi, Silvia, et al. “A variant of the LRP4 gene affects the risk of chronic lymphocytic leukaemia transformation to Richter syndrome.British Journal of Haematology, vol. 152, no. 3, Feb. 2011, pp. 284–94. Epmc, doi:10.1111/j.1365-2141.2010.08482.x.
Rasi S, Spina V, Bruscaggin A, Vaisitti T, Tripodo C, Forconi F, De Paoli L, Fangazio M, Sozzi E, Cencini E, Laurenti L, Marasca R, Visco C, Xu-Monette ZY, Gattei V, Young KH, Malavasi F, Deaglio S, Gaidano G, Rossi D. A variant of the LRP4 gene affects the risk of chronic lymphocytic leukaemia transformation to Richter syndrome. British journal of haematology. 2011 Feb;152(3):284–294.
Journal cover image

Published In

British journal of haematology

DOI

EISSN

1365-2141

ISSN

0007-1048

Publication Date

February 2011

Volume

152

Issue

3

Start / End Page

284 / 294

Related Subject Headings

  • Syndrome
  • Sequence Alignment
  • Prognosis
  • Polymorphism, Single Nucleotide
  • Neoplasm Proteins
  • Molecular Sequence Data
  • Middle Aged
  • Male
  • Lymphoma
  • Leukemia, Lymphocytic, Chronic, B-Cell