久しぶりに大腸癌とGWAS：Nature Genetics

久しぶりに大腸癌とGWASをnoteしてみる。

Nature Genetics
46,　533–542　(2014)

Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk

Received　19 November 2013

Accepted　21 April 2014

Published online　18 May 2014

Vanderbilt University School of Medicine, Nashville, Tennessee, USA.と日本、中国、韓国連合軍 

Known genetic loci explain only a small proportion of the familial relative risk of colorectal cancer (CRC). We conducted a genome-wide association study of CRC in East Asians with 14,963 cases and 31,945 controls and identified 6 new loci associated with CRC risk (P = 3.42 × 10⁻⁸ to 9.22 × 10⁻²¹) at 10q22.3, 10q25.2, 11q12.2, 12p13.31, 17p13.3 and 19q13.2. 

Two of these loci map to genes (TCF7L2 and TGFB1) with established roles in colorectal tumorigenesis. Four other loci are located in or near genes involved in transcriptional regulation (ZMIZ1), genome maintenance (FEN1), fatty acid metabolism (FADS1 and FADS2), cancer cell motility and metastasis (CD9), and cell growth and differentiation (NXN). We also found suggestive evidence for three additional loci associated with CRC risk near genome-wide significance at 8q24.11, 10q21.1 and 10q24.2. Furthermore, we replicated 22 previously reported CRC-associated loci. Our study provides insights into the genetic basis of CRC and suggests the involvement of new biological pathways.