常见的 3q26.2、6p21.33、17p11.2 和 22q13.1 变异可影响多发性骨髓瘤风险。
Common variation at 3q26.2, 6p21.33, 17p11.2 and 22q13.1 influences multiple myeloma risk.
机构信息
Division of Genetics and Epidemiology, Institute of Cancer Research, Surrey, UK.
Department of Internal Medicine V, University of Heidelberg, Heidelberg, Germany.
出版信息
Nat Genet. 2013 Oct;45(10):1221-1225. doi: 10.1038/ng.2733. Epub 2013 Aug 18.
To identify variants for multiple myeloma risk, we conducted a genome-wide association study with validation in additional series totaling 4,692 individuals with multiple myeloma (cases) and 10,990 controls. We identified four risk loci at 3q26.2 (rs10936599, P = 8.70 × 10(-14)), 6p21.33 (rs2285803, PSORS1C2, P = 9.67 × 10(-11)), 17p11.2 (rs4273077, TNFRSF13B, P = 7.67 × 10(-9)) and 22q13.1 (rs877529, CBX7, P = 7.63 × 10(-16)). These data provide further evidence for genetic susceptibility to this B-cell hematological malignancy, as well as insight into the biological basis of predisposition.
为了鉴定多发性骨髓瘤风险的变异，我们进行了一项全基因组关联研究，在总计 4692 名多发性骨髓瘤患者（病例）和 10990 名对照者的其他系列中进行了验证。我们在 3q26.2 处鉴定出四个风险位点（rs10936599，P=8.70×10(-14)）、6p21.33（rs2285803，PSORS1C2，P=9.67×10(-11)）、17p11.2（rs4273077，TNFRSF13B，P=7.67×10(-9)）和 22q13.1（rs877529，CBX7，P=7.63×10(-16)）。这些数据为这种 B 细胞血液恶性肿瘤的遗传易感性提供了进一步的证据，并深入了解了易感性的生物学基础。
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