title: Unexpectedly high frequency of European parentage in Venezuelan patients with chronic lymphocytic leukemia.
abstract: There is insufficient information on the characteristics of chronic lymphocytic leukemia (CLL) in Latin American patients. Immunoglobulin variable-region heavy-chain (IGVH) gene usage and mutation status and prognostic factors were investigated in patients resident in Venezuela. The most frequently used IGVH family genes were: VH3 > VH1 > VH4 > VH5, with a high incidence of IGVH1.69 and IGVH3.21 genes, and 55.2% of IGVH genes were mutated. Analysis of HCDR3 (third complementarity-determining region of the heavy chain) revealed that 24% of Venezuelan HCDR3s belonged to a CLL stereotyped HCDR3. Results for prognostic factors were similar to those reported previously for Caucasian populations. Interestingly, we found an over-representation of people of European extraction among Venezuelan patients with CLL, suggesting the possibility of a higher frequency of susceptibility genes for CLL in Europeans in comparison with Latin American mestizos.
authors.affiliation: Laboratorio de Patología Celular y Molecular, Centro de Medicina Experimental, Instituto Venezolano de Investigaciones Científicas, Caracas, Venezuela. marmarqu@ivic.gob.ve
authors.forename: Maria-Elena
authors.initials: ME
authors.lastname: Marquez
authors.forename: Pierre-Antoine
authors.initials: PA
authors.lastname: Deglesne
authors.forename: Jose Luis
authors.initials: JL
authors.lastname: Lopez
authors.forename: Osiris
authors.initials: O
authors.lastname: Da Costa
authors.forename: Mildred
authors.initials: M
authors.lastname: Borrego
authors.forename: Marcos
authors.initials: M
authors.lastname: Hernández
authors.forename: Aixa
authors.initials: A
authors.lastname: Muller
authors.forename: Florence
authors.initials: F
authors.lastname: Ajchenbaum-Cymbalista
authors.forename: Egidio
authors.initials: E
authors.lastname: Romano
mesh_terms: D051997:ADP-ribosyl Cyclase 1 / Q000378:metabolism; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D014408:Biomarkers, Tumor / Q000235:genetics* / Q000378:metabolism; D022801:Complementarity Determining Regions / Q000235:genetics*; D005260:Female; D005434:Flow Cytometry; D006801:Humans; D007143:Immunoglobulin Heavy Chains / Q000235:genetics*; D007135:Immunoglobulin Variable Region / Q000235:genetics*; D015451:Leukemia, Lymphocytic, Chronic, B-Cell / Q000175:diagnosis / Q000208:ethnology* / Q000235:genetics*; D008297:Male; D008562:Membrane Glycoproteins / Q000378:metabolism; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D009367:Neoplasm Staging; D011379:Prognosis; D014687:Venezuela / Q000208:ethnology; D044465:White People / Q000235:genetics*; D051746:ZAP-70 Protein-Tyrosine Kinase / Q000378:metabolism
chemical_list: D014408:Biomarkers, Tumor; D022801:Complementarity Determining Regions; D007143:Immunoglobulin Heavy Chains; D007135:Immunoglobulin Variable Region; D008562:Membrane Glycoproteins; D051746:ZAP-70 Protein-Tyrosine Kinase; C498154:CD38 protein, human; D051997:ADP-ribosyl Cyclase 1