Leukemia. 2013 Feb;27(2):515-6. doi: 10.1038/leu.2012.232. Epub 2012 Aug 16.
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 . 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.
意义未明的单克隆丙种球蛋白血症（MGUS）是多发性骨髓瘤（MM）的癌前前驱。虽然已经确定了几种与 MM 相关的遗传变异，但尚未确定与 MGUS 相关的遗传变异。最近，Broderick 进行了 MM 的全基因组关联研究，在 3p22.1（rs1052501）、7p15.3（rs4487645）和 2p23.3（rs6746082）处鉴定出三个与 MM 风险相关的新位点。我们在基于临床的 391 例 MGUS 病例和 365 例对照的病例对照研究中检查了这些变异与 MGUS 的关联。我们还试图复制与 MM 相关的报道关联（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）的风险增加相关。然而，对于另外两个位点 rs6746082 和 rs4487645，在 MGUS 或 MM 中均没有关联。我们确定了一个遗传变异，它可能通过与 MGUS 的关联对 MM 产生影响。
