Germline variants at SOHLH2 influence multiple myeloma risk

Blood Cancer J. 2021 Apr 19;11(4):76. doi: 10.1038/s41408-021-00468-6.

Abstract

Multiple myeloma (MM) is caused by the uncontrolled, clonal expansion of plasma cells. While there is epidemiological evidence for inherited susceptibility, the molecular basis remains incompletely understood. We report a genome-wide association study totalling 5,320 cases and 422,289 controls from four Nordic populations, and find a novel MM risk variant at SOHLH2 at 13q13.3 (risk allele frequency = 3.5%; odds ratio = 1.38; P = 2.2 × 10-14). This gene encodes a transcription factor involved in gametogenesis that is normally only weakly expressed in plasma cells. The association is represented by 14 variants in linkage disequilibrium. Among these, rs75712673 maps to a genomic region with open chromatin in plasma cells, and upregulates SOHLH2 in this cell type. Moreover, rs75712673 influences transcriptional activity in luciferase assays, and shows a chromatin looping interaction with the SOHLH2 promoter. Our work provides novel insight into MM susceptibility.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Basic Helix-Loop-Helix Transcription Factors / genetics*
  • Female
  • Gene Frequency
  • Genetic Predisposition to Disease
  • Genome-Wide Association Study
  • Germ Cells / metabolism
  • Germ-Line Mutation
  • Humans
  • Linkage Disequilibrium
  • Male
  • Multiple Myeloma / genetics*
  • Polymorphism, Single Nucleotide

Substances

  • Basic Helix-Loop-Helix Transcription Factors
  • SOHLH2 protein, human