Recurrent, low-frequency coding variants contributing to colorectal cancer in the Swedish population

Xiang Jiao, Wen Liu, Hovsep Mahdessian, Patrick Bryant, Jenny Ringdahl, Maria Timofeeva, Susan M Farrington, Malcolm Dunlop, Annika Lindblom

Research output: Contribution to journalArticlepeer-review


Genome-wide association studies (GWAS) have identified dozens of common genetic variants associated with risk of colorectal cancer (CRC). However, the majority of CRC heritability remains unclear. In order to discover low-frequency, high-risk CRC susceptibility variants in Swedish population, we genotyped 1 515 CRC patients enriched for familial cases, and 12 108 controls. Case/control association analysis suggested eight novel variants associated with CRC risk (OR 2.0-17.6, p-value < 2.0E-07), comprised of seven coding variants in genes RAB11FIP5, POTEA, COL27A1, MUC5B, PSMA8, MYH7B, and PABPC1L as well as one variant downstream of NEU1 gene. We also confirmed 27 out of 30 risk variants previously reported from GWAS in CRC with a mixed European population background. This study identified rare, coding sequence variants associated with CRC risk through analysis in a relatively homogeneous population. The segregation data suggest a complex mode of inheritance in seemingly dominant pedigrees.

Original languageEnglish
Pages (from-to)e0193547
JournalPLoS ONE
Issue number3
Publication statusPublished - 16 Mar 2018


  • Journal Article


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