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Aitzkoa Lopez de Lapuente Portilla
Researcher at Lund University
Publications - 11
Citations - 196
Aitzkoa Lopez de Lapuente Portilla is an academic researcher from Lund University. The author has contributed to research in topics: Medicine & Biology. The author has an hindex of 3, co-authored 6 publications receiving 102 citations. Previous affiliations of Aitzkoa Lopez de Lapuente Portilla include University of the Basque Country.
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Journal ArticleDOI
Identification of sequence variants influencing immunoglobulin levels.
Stefan Jonsson,Gardar Sveinbjornsson,Aitzkoa Lopez de Lapuente Portilla,Bhairavi Swaminathan,Rosina Plomp,Gillian Dekkers,Ram Ajore,Mina Ali,Arthur E. H. Bentlage,Evelina Elmér,Gudmundur I. Eyjolfsson,Sigurjon A. Gudjonsson,Urban Gullberg,Arnaldur Gylfason,Bjarni V. Halldorsson,Markus Hansson,Hilma Holm,Åsa Johansson,Ellinor Johnsson,Aslaug Jonasdottir,Bjorn R. Ludviksson,Asmundur Oddsson,Isleifur Olafsson,Sigurgeir Olafsson,Olof Sigurdardottir,Asgeir Sigurdsson,Lilja Stefansdottir,Gisli Masson,Patrick Sulem,Manfred Wuhrer,Anna-Karin Wihlborg,Gudmar Thorleifsson,Daniel F. Gudbjartsson,Unnur Thorsteinsdottir,Gestur Vidarsson,Ingileif Jonsdottir,Björn Nilsson,Björn Nilsson,Kari Stefansson +38 more
TL;DR: A genome-wide association study of 19,219 individuals found 38 new variants and replicated 5 known variants associating with IgA, IgG or IgM levels or with composite immunoglobulin traits, accounted for by 32 loci.
Journal ArticleDOI
Inherited myeloproliferative neoplasm risk affects haematopoietic stem cells
Erik L. Bao,Satish K. Nandakumar,Satish K. Nandakumar,Satish K. Nandakumar,Xiaotian Liao,Xiaotian Liao,Xiaotian Liao,Alexander G. Bick,Juha Karjalainen,Marcin Tabaka,Olga I. Gan,Olga I. Gan,Aki S. Havulinna,Tuomo Kiiskinen,Caleb A. Lareau,Aitzkoa Lopez de Lapuente Portilla,Bo Li,Bo Li,Connor A. Emdin,Connor A. Emdin,Veryan Codd,Veryan Codd,Christopher P. Nelson,Christopher P. Nelson,Christopher J. Walker,Claire Churchhouse,Albert de la Chapelle,Daryl E. Klein,Björn Nilsson,Björn Nilsson,Peter W.F. Wilson,Peter W.F. Wilson,Kelly Cho,Kelly Cho,Saiju Pyarajan,J. Michael Gaziano,J. Michael Gaziano,Nilesh J. Samani,Nilesh J. Samani,Aviv Regev,Aviv Regev,Aviv Regev,Aarno Palotie,Aarno Palotie,Benjamin M. Neale,John E. Dick,John E. Dick,Pradeep Natarajan,Pradeep Natarajan,Christopher J. O'Donnell,Mark J. Daly,Mark J. Daly,Michael Milyavsky,Sekar Kathiresan,Sekar Kathiresan,Vijay G. Sankaran +55 more
TL;DR: A large-scale genome-wide association study identifies 17 genetic loci that are associated with the risk of myeloproliferative neoplasms (MPNs), and shows that the modulation of haematopoietic stem cell function drives MPN risk.
Journal ArticleDOI
Author Correction: Functional dissection of inherited non-coding variation influencing multiple myeloma risk
Ram Ajore,Abhishek Niroula,Maroulio Pertesi,Caterina Cafaro,Malte Thodberg,Molly Went,Erik L. Bao,Laura Duran-Lozano,Aitzkoa Lopez de Lapuente Portilla,Thorunn A. Olafsdottir,Nerea Ugidos-Damboriena,Olafur T. Magnusson,Mehmet Kemal Samur,Caleb A. Lareau,Gisli H. Halldorsson,Gudmar Thorleifsson,Gudmundur L. Norddahl,Kristbjorg Gunnarsdottir,Asta Försti,Hartmut Goldschmidt,Kari Hemminki,Frits van Rhee,Scott Kimber,Adam S. Sperling,M. L. Kaiser,Kenneth C. Anderson,Ingileif Jonsdottir,Nikhil C. Munshi,Thorunn Rafnar,Anders Waage,Niels Weinhold,Unnur Thorsteinsdottir,Vijay G. Sankaran,Kari Stefansson,Richard S. Houlston,Björn Nilsson +35 more
TL;DR: In this article , the authors investigate 1,039 variants associated with multiple myeloma (MM) and identify putative causal variants at six risk loci (SMARCD3, WAC, ELL2, CDCA7L, CEP120, and PREX1).
Journal ArticleDOI
Functional dissection of inherited non-coding variation influencing multiple myeloma risk
Ram Ajore,Abhishek Niroula,Maroulio Pertesi,Caterina Cafaro,Malte Thodberg,Molly Went,Erik L. Bao,Laura Duran-Lozano,Aitzkoa Lopez de Lapuente Portilla,Thorunn A. Olafsdottir,Nerea Ugidos-Damboriena,Olafur T. Magnusson,Mehmet Kemal Samur,Caleb A. Lareau,Gisli H. Halldorsson,Gudmar Thorleifsson,Gudmundur L. Norddahl,Kristbjorg Gunnarsdottir,Asta Försti,Hartmut Goldschmidt,Kari Hemminki,Frits van Rhee,Scott Kimber,Adam S. Sperling,M. L. Kaiser,Kenneth C. Anderson,Ingileif Jonsdottir,Nikhil C. Munshi,Thorunn Rafnar,Anders Waage,Niels Weinhold,Unnur Thorsteinsdottir,Vijay G. Sankaran,Kari Stefansson,Richard S. Houlston,Björn Nilsson +35 more
TL;DR: In this article , the authors investigate 1,039 variants associated with multiple myeloma (MM) and identify putative causal variants at six risk loci (SMARCD3, WAC, ELL2, CDCA7L, CEP120, and PREX1).
Posted ContentDOI
Genetic predisposition to myeloproliferative neoplasms implicates hematopoietic stem cell biology
Erik L. Bao,Erik L. Bao,Satish K. Nandakumar,Satish K. Nandakumar,Xiaotian Liao,Xiaotian Liao,Alexander G. Bick,Alexander G. Bick,Juha Karjalainen,Marcin Tabaka,Olga I. Gan,Olga I. Gan,Aki S. Havulinna,Tuomo Kiiskinen,Caleb A. Lareau,Caleb A. Lareau,Aitzkoa Lopez de Lapuente Portilla,Bo Li,Bo Li,Connor A. Emdin,Connor A. Emdin,Veryan Codd,Christopher P. Nelson,Pradeep Natarajan,Pradeep Natarajan,Claire Churchhouse,Björn Nilsson,Björn Nilsson,Peter W.F. Wilson,Peter W.F. Wilson,Kelly Cho,Kelly Cho,Saiju Pyarajan,J. Michael Gaziano,J. Michael Gaziano,Nilesh J. Samani,Million Veteran Program,Aviv Regev,Aarno Palotie,Aarno Palotie,Benjamin M. Neale,John E. Dick,John E. Dick,Christopher J. O'Donnell,Mark J. Daly,Mark J. Daly,Michael Milyavsky,Sekar Kathiresan,Sekar Kathiresan,Vijay G. Sankaran,Vijay G. Sankaran +50 more
TL;DR: The largest genome-wide association study of MPNs to date is conducted and the power of human genetic studies is demonstrated to illuminate a previously unappreciated mechanism for MPN risk through modulation of HSC function.