Risk of Colon Cancer Associated with Genetic Variants

Posted on October 8th, 2008 by

Risk of Colon Cancer Associated with Genetic Variants

Genetic changes in the surrounding region of the ADIPQ gene are associated with a decrease in the risk of developing colorectal cancer. Results such as these may aid in the understanding of genetic risk of various cancers, ultimately changing the way in which cancer is managed. These results were recently published in the Journal of the American Medical Association.

Colorectal cancer is the second-leading cause of cancer-related deaths in the United States. Understanding genetic alterations, or mutations, that may be associated with the risk of developing colorectal cancer may potentially aid geneticists in determining a patient?s risk of developing a specific disease. As well, understanding genetic alterations may allow scientists to alter defective genes to reduce the risk of developing a disease.

Researchers from the University of Alabama recently conducted a clinical study to evaluate alterations of the adiponectin (ADIPOQ) and adiponectin receptor 1 (ADIPOR1) genes and their potential relationship to colorectal cancer. These genes are involved in the pathway of adinopectin, a hormone secreted by fat (adipose tissue) that plays an important role in the body?s regulation of insulin. Adinopectin has demonstrated a relationship with colorectal cancer; specifically, lower levels of adinopectin are associated with an increased risk of developing colorectal cancer and vice versa. Individuals who are obese tend to have lower levels of adinopectin, supporting data indicating that obesity is linked to a higher risk of developing colorectal cancer.

The researchers conducted two small studies evaluating the ADIPOQ and ADIPOR1 genes and risk of colorectal cancer. The first study included 441 patients who had been diagnosed with colorectal cancer and 658 healthy patients; both groups were of Ashkenazi Jewish ancestry from New York. The second study included 199 patients who had been diagnosed with colorectal cancer and 199 healthy individuals.

  • A specific alteration referred to as the single-nucleotide polymorphism (SNP) rs266729 flanking the ADIPOQ gene was associated with a significant decrease in the risk of colorectal cancer.
  • Results from the two studies combined showed that the SNP rs266729 of the ADIPOQ gene was associated with an approximate 25% reduced risk of developing colorectal cancer.

The researchers concluded: ?Future studies will need to address the potential impact of adiponectin and its SNPs in the prognosis of colorectal cancer and also may be incorporated in genetic risk models for the disease;??they add?that this information ?may emerge as an important modifier of colorectal cancer risk.?

Reference: Kaklamani V, Wisinski K, Sadim M, et al. Variants of the adiponectin (ADIPOQ) and adiponectin receptor 1 (ADIPOR1) genes and colorectal cancer risk. Journal of the American Medical Association. 2008;300:1523-1531.

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