Differences in genomic abnormalities among African individuals with monoclonal gammopathies using calculated ancestry

Research output: Contribution to journalArticle


title = "Differences in genomic abnormalities among African individuals with monoclonal gammopathies using calculated ancestry",
abstract = "Multiple myeloma (MM) is two- to three-fold more common in African Americans (AAs) compared to European Americans (EAs). This striking disparity, one of the highest of any cancer, may be due to underlying genetic predisposition between these groups. There are multiple unique cytogenetic subtypes of MM, and it is likely that the disparity is associated with only certain subtypes. Previous efforts to understand this disparity have relied on self-reported race rather than genetic ancestry, which may result in bias. To mitigate these difficulties, we studied 881 patients with monoclonal gammopathies who had undergone uniform testing to identify primary cytogenetic abnormalities. DNA from bone marrow samples was genotyped on the Precision Medicine Research Array and biogeographical ancestry was quantitatively assessed using the Geographic Population Structure Origins tool. The probability of having one of three specific subtypes, namely t(11;14), t(14;16), or t(14;20) was significantly higher in the 120 individuals with highest African ancestry (≥80{\%}) compared with the 235 individuals with lowest African ancestry (<0.1{\%}) (51{\%} vs. 33{\%}, respectively, p value = 0.008). Using quantitatively measured African ancestry, we demonstrate a major proportion of the racial disparity in MM is driven by disparity in the occurrence of the t(11;14), t(14;16), and t(14;20) types of MM.",
keywords = "Adult, African Continental Ancestry Group/genetics, Aged, Aged, 80 and over, Chromosome Aberrations, Chromosome Banding, Disease Progression, Female, Gene Rearrangement, Genes, myc, Genetic Variation, Humans, In Situ Hybridization, Fluorescence, Male, Middle Aged, Odds Ratio, Paraproteinemias/diagnosis",
author = "Baughn, {Linda B} and Kathryn Pearce and Dirk Larson and Mei-Yin Polley and Eran Elhaik and Michael Baird and Colin Colby and Joanne Benson and Zhuo Li and Yan Asmann and Terry Therneau and Cerhan, {James R} and Vachon, {Celine M} and Stewart, {A Keith} and Bergsagel, {P Leif} and Angela Dispenzieri and Shaji Kumar and Rajkumar, {S Vincent}",
year = "2018",
month = "10",
day = "10",
doi = "10.1038/s41408-018-0132-1",
language = "English",
volume = "8",
journal = "Blood Cancer Journal",
issn = "2044-5385",
publisher = "Nature Publishing Group",