位于15号染色体13.3区的CRAC1（HMPS）基因座上的常见基因变异影响结直肠癌风险。

Common genetic variants at the CRAC1 (HMPS) locus on chromosome 15q13.3 influence colorectal cancer risk.

作者信息

Jaeger Emma, Webb Emily, Howarth Kimberley, Carvajal-Carmona Luis, Rowan Andrew, Broderick Peter, Walther Axel, Spain Sarah, Pittman Alan, Kemp Zoe, Sullivan Kate, Heinimann Karl, Lubbe Steven, Domingo Enric, Barclay Ella, Martin Lynn, Gorman Maggie, Chandler Ian, Vijayakrishnan Jayaram, Wood Wendy, Papaemmanuil Elli, Penegar Steven, Qureshi Mobshra, Farrington Susan, Tenesa Albert, Cazier Jean-Baptiste, Kerr David, Gray Richard, Peto Julian, Dunlop Malcolm, Campbell Harry, Thomas Huw, Houlston Richard, Tomlinson Ian

机构信息

Molecular and Population Genetics Laboratory, Cancer Research UK, London WC2A 3PX, UK.

出版信息

Nat Genet. 2008 Jan;40(1):26-8. doi: 10.1038/ng.2007.41. Epub 2007 Dec 16.

DOI:10.1038/ng.2007.41

PMID:18084292

Abstract

We mapped a high-penetrance gene (CRAC1; also known as HMPS) associated with colorectal cancer (CRC) in the Ashkenazi population to a 0.6-Mb region on chromosome 15 containing SCG5 (also known as SGNE1), GREM1 and FMN1. We hypothesized that the CRAC1 locus harbored low-penetrance variants that increased CRC risk in the general population. In a large series of colorectal cancer cases and controls, SNPs near GREM1 and SCG5 were strongly associated with increased CRC risk (for rs4779584, P = 4.44 x 10(-14)).

摘要

我们将阿什肯纳兹人群中与结直肠癌（CRC）相关的一个高外显率基因（CRAC1；也称为HMPS）定位到15号染色体上一个包含SCG5（也称为SGNE1）、GREM1和FMN1的0.6兆碱基区域。我们推测CRAC1基因座含有低外显率变异，这些变异会增加普通人群患CRC的风险。在一大系列结直肠癌病例和对照中，GREM1和SCG5附近的单核苷酸多态性（SNP）与CRC风险增加密切相关（对于rs4779584，P = 4.44×10⁻¹⁴）。