Article
Functional dissection of inherited non-coding variation influencing multiple myeloma risk.
Nature communications - 10 Jan 2022
Ajore Ram, Niroula Abhishek, Pertesi Maroulio, Cafaro Caterina, Thodberg Malte, Went Molly, Bao Erik L, Duran-Lozano Laura, Lopez de Lapuente Portilla Aitzkoa, Olafsdottir Thorunn, Ugidos-Damboriena Nerea, Magnusson Olafur, Samur Mehmet, Lareau Caleb A, Halldorsson Gisli H, Thorleifsson Gudmar, Norddahl Gudmundur L, Gunnarsdottir Kristbjorg, Försti Asta, Goldschmidt Hartmut, Hemminki Kari, van Rhee Frits, Kimber Scott, Sperling Adam S, Kaiser Martin, Anderson Kenneth, Jonsdottir Ingileif, Munshi Nikhil, Rafnar Thorunn, Waage Anders, Weinhold Niels, Thorsteinsdottir Unnur, Sankaran Vijay G, Stefansson Kari, Houlston Richard, Nilsson Björn
Abstract excerpt
Thousands of non-coding variants have been associated with increased risk of human diseases, yet the causal variants and their mechanisms-of-action remain obscure. In an integrative study combining massively parallel reporter assays (MPRA), expression analyses (eQTL, meQTL, PCHiC) and chromatin accessibility analyses in primary cells (caQTL), we investigate 1,039 variants associated with multiple myeloma (MM). We...
Topics
- Adaptor Proteins, Signal Transducing
- Antineoplastic Combined Chemotherapy Protocols
- B-Lymphocytes
- Base Sequence
- Cell Cycle Proteins
- Chromatin