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Germline variants at SOHLH2 influence multiple myeloma risk
- Source :
- Blood Cancer Journal, Vol 11, Iss 4, Pp 1-8 (2021)
- Publication Year :
- 2021
- Publisher :
- Nature Publishing Group, 2021.
-
Abstract
- 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.
- Subjects :
- Neoplasms. Tumors. Oncology. Including cancer and carcinogens
RC254-282
Subjects
Details
- Language :
- English
- ISSN :
- 20445385
- Volume :
- 11
- Issue :
- 4
- Database :
- Directory of Open Access Journals
- Journal :
- Blood Cancer Journal
- Publication Type :
- Academic Journal
- Accession number :
- edsdoj.39306bdf64254d54930fcaa0a91e984b
- Document Type :
- article
- Full Text :
- https://doi.org/10.1038/s41408-021-00468-6