The CCND1 c.870G>A polymorphism is a risk factor for t(11;14)(q13;q32) multiple myeloma
A partir de données issues de deux études d'association sur le génome entier incluant un total de 1 661 patients atteints d'un myélome multiple, cette méta-analyse identifie un polymorphisme du gène CCND1 en association avec le risque d'un sous-type de la maladie caractérisé par la translocation t(11;14)(q13;q32)
A number of specific chromosomal abnormalities define the subgroups of multiple myeloma. In a meta-analysis of two genome-wide association studies of multiple myeloma including a total of 1,661 affected individuals, we investigated risk for developing a specific tumor karyotype. The t(11;14)(q13;q32) translocation in which CCND1 is placed under the control of the immunoglobulin heavy chain enhancer was strongly associated with the CCND1 c.870G>A polymorphism (P = 7.96 × 10−11). These results provide a model in which a constitutive genetic factor is associated with risk of a specific chromosomal translocation.
Nature Genetics 2013