• Functional dissection of inherited non-coding variation influencing multiple myeloma risk 

      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 (Peer reviewed; Journal article, 2022)
      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 ...
    • Genome-wide association study identifies multiple susceptibility loci for multiple myeloma 

      Mitchell, Jonathan S; Li, Ni; Weinhold, Niels; Försti, Asta; Ali, Mina; Van Duin, Mark; Thorleifsson, Gudmar; Johnson, David C; Chen, Bowang; Halvarsson, Britt-Marie; Gudbjartsson, Daniel F.; Kuiper, Rowan; Stephens, Owen W; Bertsch, Uta; Broderick, Peter; Campo, Chiara; Einsele, Hermann; Gregory, Walter A; Gullberg, Urban; Henrion, Marc; Hillengass, Jens; Hoffmann, Per; Jackson, Graham H.; Johnsson, Ellinor; Jöud, Magnus; Kristinsson, Sigurdur Y; Lenhoff, Stig; Lenive, Oleg; Mellqvist, Ulf-Henrik; Migliorini, Gabriele; Nahi, Hareth; Nelander, Sven; Nickel, Jolanta; Nothen, Markus M; Rafnar, Thorunn; Ross, Fiona M; Da Silva Filho, Miguel Inacio; Swaminathan, Bhairavi; Thomsen, Hauke; Turesson, Ingemar; Vangsted, Annette; Vogel, Ulla; Waage, Anders; Walker, Brian A; Wihlborg, Anna-Karin; Broyl, Annemiek; Davies, Faith E; Thorsteinsdottir, Unnur; Langer, Christian; Hansson, Markus; Kaiser, Martin; Sonneveld, Pieter; Stefansson, Kari; Morgan, Gareth J; Goldschmidt, Hartmut; Hemminki, Kari; Nilsson, Björn; Houlston, Richard S. (Peer reviewed; Journal article, 2016)
      Multiple myeloma (MM) is a plasma cell malignancy with a significant heritable basis. Genome-wide association studies have transformed our understanding of MM predisposition, but individual studies have had limited power ...
    • Germline variants at SOHLH2 influence multiple myeloma risk 

      Duran-Lozano, Laura; Thorleifsson, Gudmar; Lopez de Lapuente Portilla, Aitzkoa; Niroula, Abhishek; Went, Molly; Thodberg, Malte; Pertesi, Maroulio; Ajore, Ram; Cafaro, Caterina; Olason, P; Stefansdottir, Lilja; Bragi Walters, Walters; Halldorsson, Gisli H.; Turesson, Ingemar; Kaiser, Martin; Weinhold, Niels; Abildgaard, Niels; Andersen, Niels Frost; Mellqvist, Ulf-Henrik; Waage, Anders; Vangsted, Annette; Thorsteinsdottir, Unnur; Hansson, Markus; Houlston, Richard S.; Rafnar, Thorunn; Stefansson, Kari; Nilsson, Björn (Peer reviewed; Journal article, 2021)
      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 ...
    • Identification of multiple risk loci and regulatory mechanisms influencing susceptibility to multiple myeloma 

      Went, Molly; Sud, Amit; Försti, Asta; Halvarsson, Britt-Marie; Weinhold, Niels; Kimber, Scott; van Duin, Mark; Thorleifsson, Gudmar; Holroyd, Amy; Johnson, David C.; Li, Ni; Orlando, Giulia; Law, Philip J.; Ali, Mina; Chen, Bowang; Mitchell, Jonathan S.; Gudbjartsson, Daniel F.; Kuiper, Rowan; Stephens, Owen W.; Bertsch, Uta; Broderick, Peter; Campo, Chiara; Bandapalli, Obul R.; Einsele, Hermann; Gregory, Walter A.; Gullberg, Urban; Hillengass, Jens; Hoffmann, Per; Jackson, Graham H.; Jöckel, Karl-Heinz; Johnsson, Ellinor; Kristinsson, Sigurður Y.; Mellqvist, Ulf-Henrik; Nahi, Hareth; Easton, Douglas; Pharoah, Paul; Dunning, Alison; Peto, Julian; Canzian, Federico; Swerdlow, Anthony; Eeles, Rosalind A.; Kote-Jarai, ZSofia; Muir, Kenneth; Pashayan, Nora; Nickel, Jolanta; Nöthen, Markus M.; Rafnar, Thorunn; Ross, Fiona M.; da Silva Filho, Miguel Inacio; Thomsen, Hauke; Turesson, Ingemar; Vangsted, Annette; Andersen, Niels Frost; Waage, Anders; Walker, Brian A.; Wihlborg, Anna-Karin; Broyl, Annemiek; Davies, Faith E.; Thorsteinsdóttir, Unnur; Langer, Christian; Hansson, Markus; Goldschmidt, Hartmut; Kaiser, Martin; Sonneveld, Pieter; Stefansson, Kari; Morgan, Gareth J.; Hemminki, Kari; Nilsson, Björn; Houlston, Richard S. (Journal article; Peer reviewed, 2018)
      Genome-wide association studies (GWAS) have transformed our understanding of susceptibility to multiple myeloma (MM), but much of the heritability remains unexplained. We report a new GWAS, a meta-analysis with previous ...
    • The multiple myeloma risk allele at 5q15 lowers ELL2 expression and increases ribosomal gene expression 

      Ali, Mina; Ajore, Ram; Wihlborg, Anna-Karin; Niroula, Abhishek; Swaminathan, Bhairavi; Johnsson, Ellinor; Stephens, Owen W; Morgan, Gareth; Meissner, Tobias; Turesson, Ingemar; Goldschmidt, Hartmut; Mellqvist, Ulf-Henrik; Gullberg, Urban; Hansson, Markus; Hemminki, Kari; Nahi, Hareth; Waage, Anders; Weinhold, Niels; Nilsson, Björn (Journal article; Peer reviewed, 2018)
      Recently, we identified ELL2 as a susceptibility gene for multiple myeloma (MM). To understand its mechanism of action, we performed expression quantitative trait locus analysis in CD138+ plasma cells from 1630 MM patients ...