Direct evidence for a polygenic etiology in familial multiple myeloma.

نویسندگان

  • Britt-Marie Halvarsson
  • Anna-Karin Wihlborg
  • Mina Ali
  • Konstantinos Lemonakis
  • Ellinor Johnsson
  • Abhishek Niroula
  • Carrie Cibulskis
  • Niels Weinhold
  • Asta Försti
  • Evren Alici
  • Christian Langer
  • Michael Pfreundschuh
  • Hartmut Goldschmidt
  • Ulf-Henrik Mellqvist
  • Ingemar Turesson
  • Anders Waage
  • Kari Hemminki
  • Todd Golub
  • Hareth Nahi
  • Urban Gullberg
  • Markus Hansson
  • Björn Nilsson
چکیده

Although common risk alleles for multiple myeloma (MM) were recently identified, their contribution to familial MM is unknown. Analyzing 38 familial cases identified primarily by linking Swedish nationwide registries, we demonstrate an enrichment of common MM risk alleles in familial compared with 1530 sporadic cases (P = 4.8 × 10-2 and 6.0 × 10-2, respectively, for 2 different polygenic risk scores) and 10 171 population-based controls (P = 1.5 × 10-4 and 1.3 × 10-4, respectively). Using mixture modeling, we estimate that about one-third of familial cases result from such enrichments. Our results provide the first direct evidence for a polygenic etiology in a familial hematologic malignancy.

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عنوان ژورنال:
  • Blood advances

دوره 1 10  شماره 

صفحات  -

تاریخ انتشار 2017