Common variation at 3p22.1 and 7p15.3 influences multiple myeloma risk

To identify risk variants for multiple myeloma, we conducted a genome-wide association study of 1,675 individuals with multiple myeloma and 5,903 control subjects. We identified risk loci for multiple myeloma at 3p22.1 (rs1052501 in ULK4; odds ratio (OR) = 1.32; P = 7.47 × 10−9) and 7p15.3 (rs4487645, OR = 1.38; P = 3.33 × 10−15). In addition, we observed a promising association at 2p23.3 (rs6746082, OR = 1.29; P = 1.22 × 10−7). Our study identifies new genomic regions associated with multiple myeloma risk that may lead to new etiological insights.

• Publication year

  2011

• Venue

  Nature Genetics

• Publication date

  2011-11-27

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1038/ng.993PMID 22120009PMCID 5108406
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Multiple myeloma.

  2011cited by this paper
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  2010cited by this paper
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  2010cited by this paper
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  2010cited by this paper
• Autophagy genes as tumor suppressors.

  2010cited by this paper
• Plasmablastic lymphoma with MYC translocation: evidence for a common pathway in the generation of plasmablastic features

  2010cited by this paper
• International Myeloma Working Group molecular classification of multiple myeloma: spotlight review

  2009cited by this paper
• Patterns of monoclonal gammopathy of undetermined significance and multiple myeloma in various ethnic/racial groups: support for genetic factors in pathogenesis

  2009cited by this paper
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  2009cited by this paper
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  2008cited by this paper
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  2008cited by this paper
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  2008cited by this paper
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  2007cited by this paper
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  2006cited by this paper
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  2006cited by this paper
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• Familial risks and temporal incidence trends of multiple myeloma.

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  2005cited by this paper
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  2004cited by this paper
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• The Structure of Haplotype Blocks in the Human Genome

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• Multiple myeloma

  2001cited by this paper
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  1998cited by this paper
• Meta-analysis, decision analysis and cost-effectiveness analysis: methods for quantitative synthesis in medicine

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• Genetics of coeliac disease.

  1996cited by this paper
• Meta-Analysis, Decision Analysis, and Cost-Effectiveness Analysis: Methods for Quantitative Synthesis in Medicine

  1994cited by this paper
• A Wilcoxon-type test for trend.

  1985cited by this paper
• The clinical significance of cytogenetic studies in 100 patients with multiple myeloma, plasma cell leukemia, or amyloidosis.

  1985cited by this paper
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  1948cited by this paper

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