Details

Autor(en) / Beteiligte

• Duran-Lozano, Laura
• Thorleifsson, Gudmar
• Lopez de Lapuente Portilla, Aitzkoa
• Niroula, Abhishek
• Went, Molly
• Thodberg, Malte
• Pertesi, Maroulio
• Ajore, Ram
• Cafaro, Caterina
• Olason, Pall I
• Stefansdottir, Lilja
• Bragi Walters, G
• Halldorsson, Gisli H
• Turesson, Ingemar
• Kaiser, Martin F
• Weinhold, Niels
• Abildgaard, Niels
• Andersen, Niels Frost
• Mellqvist, Ulf-Henrik
• Waage, Anders
• Juul-Vangsted, Annette
• Thorsteinsdottir, Unnur
• Hansson, Markus
• Houlston, Richard
• Rafnar, Thorunn
• Stefansson, Kari
• Nilsson, Björn

Titel

Germline variants at SOHLH2 influence multiple myeloma risk

Ist Teil von

• Blood cancer journal (New York), 2021-04, Vol.11 (4), p.76-76, Article 76

Ort / Verlag

United States: Springer Nature B.V

Erscheinungsjahr

2021

Link zum Volltext

Quelle

Free E-Journal (出版社公開部分のみ）

Beschreibungen/Notizen

• 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 ). 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.