rs115681984 - ABCA12 - LINC02862

Magnitude 4.5 · 1 study on file

Reported associations

  • Performance of the Use of Genetic Information to Assess the Risk of Colorectal Cancer in the Basque Population. - Cancers (2023) · Garcia-Etxebarria K, Etxart A, Barrero M, Nafria B, Segues Merino NM, Romero-Garmendia I, Franke A, D'Amato M, Bujanda L · PubMed 36077729

    Although the genetic contribution to colorectal cancer (CRC) has been studied in various populations, studies on the applicability of available genetic information in the Basque population are scarce. In total, 835 CRC cases and 940 controls from the Basque population were genotyped and genome-wide association studies were carried out. Mendelian Randomization analyses were used to discover the effect of modifiable risk factors and microbiota on CRC. In total, 25 polygenic risk score models were evaluated to assess their performance in CRC risk calculation. Moreover, 492 inflammatory bowel disease cases were used to assess whether that genetic information would not confuse both conditions. Five suggestive (p < 5 × 10−6) loci were associated with CRC risk, where genes previously associate


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Lifestyle context

Concrete actions anchored to the cited research. We do not prescribe, we describe.

Screening

  • colorectal cancer screening strategy and timing Moderate

    rs115681984 T allele associated with 4.2-fold increased colorectal cancer risk versus controls and IBD patients

    discuss with healthcare provider whether earlier or more frequent CRC screening is appropriate