Polygenic risk score and risk of monoclonal B-cell lymphocytosis in caucasians and risk of chronic lymphocytic leukemia (CLL) in African Americans

Leukemia. 2022 Jan;36(1):119-125. doi: 10.1038/s41375-021-01344-9. Epub 2021 Jul 20.

Abstract

Monoclonal B-cell lymphocytosis (MBL) is a precursor to CLL. Other than age, sex, and CLL family-history, little is known about factors associated with MBL risk. A polygenic-risk-score (PRS) of 41 CLL-susceptibility variants has been found to be associated with CLL risk among individuals of European-ancestry(EA). Here, we evaluate these variants, the PRS, and environmental factors for MBL risk. We also evaluate these variants and the CLL-PRS among African-American (AA) and EA-CLL cases and controls. Our study included 560 EA MBLs, 869 CLLs (696 EA/173 AA), and 2866 controls (2631 EA/235 AA). We used logistic regression, adjusting for age and sex, to estimate odds ratios (OR) and 95% confidence intervals within each race. We found significant associations with MBL risk among 21 of 41 variants and with the CLL-PRS (OR = 1.86, P = 1.9 × 10-29, c-statistic = 0.72). Little evidence of any association between MBL risk and environmental factors was observed. We observed significant associations of the CLL-PRS with EA-CLL risk (OR = 2.53, P = 4.0 × 10-63, c-statistic = 0.77) and AA-CLL risk (OR = 1.76, P = 5.1 × 10-5, c-statistic = 0.62). Inherited genetic factors and not environmental are associated with MBL risk. In particular, the CLL-PRS is a strong predictor for both risk of MBL and EA-CLL, but less so for AA-CLL supporting the need for further work in this population.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • B-Lymphocytes / metabolism
  • B-Lymphocytes / pathology*
  • Biomarkers, Tumor / genetics*
  • Black or African American / genetics*
  • Black or African American / statistics & numerical data
  • Case-Control Studies
  • Clone Cells
  • Female
  • Follow-Up Studies
  • Humans
  • Immunoglobulins / genetics
  • Immunoglobulins / immunology
  • Immunophenotyping
  • Leukemia, Lymphocytic, Chronic, B-Cell / epidemiology
  • Leukemia, Lymphocytic, Chronic, B-Cell / genetics
  • Leukemia, Lymphocytic, Chronic, B-Cell / pathology*
  • Lymphocytosis / epidemiology
  • Lymphocytosis / genetics
  • Lymphocytosis / pathology*
  • Male
  • Middle Aged
  • Prognosis
  • Risk Factors
  • United States / epidemiology
  • White People / genetics*
  • White People / statistics & numerical data

Substances

  • Biomarkers, Tumor
  • Immunoglobulins