Single-nucleotide polymorphism rs1052501 associated with monoclonal gammopathy of undetermined significance and multiple myeloma.

Single-nucleotide polymorphism rs1052501 associated with monoclonal gammopathy of undetermined significance and multiple myeloma.
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DOI:
10.1038/leu.2012.232
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发表时间:
2013-02
期刊:
影响因子:
11.4
通讯作者:
Vachon, C. M.
Vachon, C. M.
中科院分区:
医学1区
文献类型:
--
作者:
Greenberg, A. J.;Lee, A. M.;Serie, D. J.;McDonnell, S. K.;Cerhan, J. R.;Liebow, M.;Larson, D. R.;Colby, C. L.;Norman, A. D.;Kyle, R. A.;Kumar, S.;Rajkumar, S. V.;Diasio, R. B.;Slager, S. L.;Vachon, C. M.

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未确定意义的单克隆性伽马病(MGUS)是多发性骨髓瘤(MM)的癌前病变。虽然已经发现了几种MM的遗传变异,但没有一种是MGUS。最近,Broderick et al.在3p22.1(Rs1052501)、7p15.3(Rs4487645)和2p23.3(Rs6746082)上发现了3个新的与MM相关的基因座。我们在391例MGUS病例和365例对照的临床病例对照研究中检验了这些变异与MGUS的相关性。我们还试图复制已报道的与MM的关联(243例MM病例,365例对照)。我们发现rs1052501与MGUS(OR=1.32;95%CI,1.02至1.72;p=0.04)和MM(OR=1.39;95%CI,1.04,1.86;p=0.03)的风险增加有关。然而,MGUS和MM的另外两个座位rs6746082和rs4487645均未发现关联。我们发现了一个可能通过与MGUS的关联而影响MM的遗传变异。
Monoclonal gammopathy of undetermined significance (MGUS) is a premalignant precursor to multiple myeloma (MM). Though several genetic variants have been identified for MM, none have been identified for MGUS. Recently, Broderick et al. conducted a GWAS of MM and identified three novel loci at 3p22.1 (rs1052501), 7p15.3 (rs4487645) and 2p23.3 (rs6746082) associated with MM risk. We examined the association of these variants with MGUS in a clinic-based case-control study of 391 MGUS cases and 365 controls. We also attempted to replicate the reported association with MM (243 MM cases, 365 controls). We found rs1052501 associated with increased risk of both MGUS (OR=1.32; 95% CI, 1.02 to 1.72; p=0.04) and MM (OR=1.39; 95% CI, 1.04, 1.86; p=0.03). However, there were no associations with the other two loci, rs6746082 and rs4487645, for either MGUS or MM. We identified one genetic variant that may exert its influence on MM through its association with MGUS.
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发表时间: 2010-05-15
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