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1.
Blood Cancer J ; 9(8): 59, 2019 08 05.
Article in English | MEDLINE | ID: mdl-31383849

ABSTRACT

Chronic lymphocytic leukemia (CLL) and its precursor, monoclonal B-cell lymphocytosis (MBL), are heritable. Serumfree light-chain (sFLC) measures are a prognostic factor for CLL, but their role in susceptibility to CLL is not clear. We investigated differences between sFLC measurements in pre-treatment serum from five groups to inform the association of sFLC with familial and sporadic CLL: (1) familial CLL (n = 154), (2) sporadic CLL (n = 302), (3) familial MBL (n = 87), (4) unaffected first-degree relatives from CLL/MBL families (n = 263), and (5) reference population (n = 15,396). The percent of individuals having elevated monoclonal and polyclonal sFLCs was compared using age-stratified and age- and sex-adjusted logistic regression models. In age groups >50 years, monoclonal sFLC elevations were increased in sporadic and familial CLL cases compared to the reference population (p's < 0.05). However, there were no statistically significant differences in sFLC monoclonal or polyclonal elevations between familial and sporadic CLL cases (p's > 0.05). Unaffected relatives and MBL cases from CLL/MBL families, ages >60 years, showed elevated monoclonal sFLC, compared to the reference population (p's < 0.05). This is the first study to demonstrate monoclonal sFLC elevations in CLL cases compared to controls. Monoclonal sFLC levels may provide additional risk information in relatives of CLL probands.


Subject(s)
B-Lymphocytes/pathology , Immunoglobulin Light Chains/blood , Leukemia, Lymphocytic, Chronic, B-Cell/immunology , Lymphocytosis/immunology , Adult , Aged , Aged, 80 and over , B-Lymphocytes/immunology , Biomarkers, Tumor/blood , Biomarkers, Tumor/immunology , Case-Control Studies , Cohort Studies , Female , Humans , Leukemia, Lymphocytic, Chronic, B-Cell/blood , Leukemia, Lymphocytic, Chronic, B-Cell/epidemiology , Leukemia, Lymphocytic, Chronic, B-Cell/genetics , Lymphocytosis/blood , Lymphocytosis/epidemiology , Lymphocytosis/genetics , Male , Middle Aged , Minnesota/epidemiology
2.
Br J Haematol ; 137(3): 262-7, 2007 May.
Article in English | MEDLINE | ID: mdl-17408468

ABSTRACT

Priapism occurs in 30-45% of male patients with sickle cell disease (SCD), but the possible influence of genetic risk factors on the incidence of priapism is not well understood. We examined genetic polymorphisms in 199 unrelated, adult (>18 years), male patients with Hb SS and Hb Sbeta(0)-thalassaemia, 83 (42%) of whom reported a history of priapism. Candidate genes for association with priapism were identified based on their involvement in adhesion, coagulation, inflammation and cell signalling. Additionally, we examined genes involved in nitric oxide biology (NOS2, NOS3, SLC4A1), as well as polymorphisms in the klotho (KL) gene, which has previously been associated with priapism. Strong evidence of association was found for single nucleotide polymorphisms in transforming growth factor-beta receptor, type III (TGFBR3) (rs7526590; P = 0.00058), aquaporin (AQP1) (rs10244884; P = 0.00068), integrin alphav (ITGAV) (rs3768780; P = 0.00090), and the A1 subunit of coagulation factor XIII (F13A1) (hcv1860621; P = 0.00156). Associations with TGFBR3, AQP1, and ITGAV remained significant after adjusting for multiple testing, using the Benjamini-Hochberg procedure. Our data suggest that genes involved in the TGFbeta pathway, coagulation, cell adhesion and cell hydration pathways may be important in risk for priapism.


Subject(s)
Anemia, Sickle Cell/genetics , Polymorphism, Single Nucleotide/genetics , Priapism/genetics , Adult , Alleles , Anemia, Sickle Cell/complications , Aquaporin 1/genetics , Factor XIII/genetics , Hemoglobin, Sickle/genetics , Humans , Integrin alphaV/genetics , Male , Nitric Oxide/genetics , Priapism/complications , Proteoglycans/genetics , Receptors, Transforming Growth Factor beta/genetics , Thalassemia/genetics
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