一项全基因组关联研究鉴定出慢性淋巴细胞白血病的多个易感性位点。
A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia.
机构信息
1] Division of Genetics and Epidemiology, Institute of Cancer Research, Sutton, Surrey, UK. [2].
Division of Genetics and Epidemiology, Institute of Cancer Research, Sutton, Surrey, UK.
出版信息
Nat Genet. 2014 Jan;46(1):56-60. doi: 10.1038/ng.2843. Epub 2013 Dec 1.
Genome-wide association studies (GWAS) of chronic lymphocytic leukemia (CLL) have shown that common genetic variation contributes to the heritable risk of CLL. To identify additional CLL susceptibility loci, we conducted a GWAS and performed a meta-analysis with a published GWAS totaling 1,739 individuals with CLL (cases) and 5,199 controls with validation in an additional 1,144 cases and 3,151 controls. A combined analysis identified new susceptibility loci mapping to 3q26.2 (rs10936599, P = 1.74 × 10(-9)), 4q26 (rs6858698, P = 3.07 × 10(-9)), 6q25.2 (IPCEF1, rs2236256, P = 1.50 × 10(-10)) and 7q31.33 (POT1, rs17246404, P = 3.40 × 10(-8)). Additionally, we identified a promising association at 5p15.33 (CLPTM1L, rs31490, P = 1.72 × 10(-7)) and validated recently reported putative associations at 5p15.33 (TERT, rs10069690, P = 1.12 × 10(-10)) and 8q22.3 (rs2511714, P = 2.90 × 10(-9)). These findings provide further insights into the genetic and biological basis of inherited genetic susceptibility to CLL.
全基因组关联研究（GWAS）已表明，慢性淋巴细胞白血病（CLL）的常见遗传变异与 CLL 的遗传易感性有关。为了鉴定更多的 CLL 易感性位点，我们进行了 GWAS，并对一项已发表的 GWAS 进行了荟萃分析，该研究共纳入 1739 名 CLL 患者（病例）和 5199 名对照者，另外 1144 名 CLL 患者和 3151 名对照者进行了验证。综合分析确定了新的易感性位点，定位于 3q26.2（rs10936599，P=1.74×10(-9)）、4q26（rs6858698，P=3.07×10(-9)）、6q25.2（IPCEF1，rs2236256，P=1.50×10(-10)）和 7q31.33（POT1，rs17246404，P=3.40×10(-8)）。此外，我们还在 5p15.33 发现了一个有希望的关联（CLPTM1L，rs31490，P=1.72×10(-7)），并验证了最近报道的 5p15.33 （TERT，rs10069690，P=1.12×10(-10)）和 8q22.3（rs2511714，P=2.90×10(-9)）潜在关联。这些发现为 CLL 遗传易感性的遗传和生物学基础提供了进一步的见解。
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