Sunday, November 15, 2009

A Genetic Link - Why females have a higher risk of tearing their ACL


http://ghr.nlm.nih.gov/dynamicImages/chromomap/col5a1.jpeg

The COL5A1 Gene is Associated with Increased Risk of Anterior Cruciate Ligament Ruptures in Female Participants

ACL injuries generally require a long recovery time. As a result, many studies have been done to identify risk factors and preventative measures that can be taken. It is commonly recognized that women have a higher probability of tearing their ACL than men, but it is not fully understood exactly why that is; women have up to 4.6 times greater risk of ALC rupture than men. A study titled “The COL5A1 Gene Is Associated with Increased Risk of Anterior Cruciate Ligament Rupture in Female Participants” explored this relationship. This study was published August 4, 2009. It can be found in the American Journal of Sports Medicine.


This study found that the female participants with a CC genotype in the COL5A1 gene had a decreased risk of ACL ruptures. This has never been shown before. The COL5A1 gene encodes for the alpha-1 chain in type V collagen, which is an important structural constituent of both ligaments and tendons. Thus it would make sense that women who were effective at producing type V collagen would have a decreased risk of tearing their ACL. Although the CC genotype was underrepresented in females with ACL ruptures, this link was not found in men, indicating that lacking the CC genotype is a gender-specific risk factor. The researchers in this study also found that female, but not male participants within the ACL group reported a significantly higher family history of ligament injury. This second finding is supported by data from another study. This again supports the idea of a genetic risk factor associated with family history, specifically in women.


It is important to identify these risk factors because avoiding an extremely painful injury with a long recovery process is important. The CC genotype of the COL5A1 gene might be a candidate for genetic testing. If you are a woman and you knew you did not have the CC genotype would you still participate in sports that involved jumping, such as basketball? Would you be more disciplined in learning preventative behavior, such as safe landing practices? These are things to consider as we move into a new era of science where it is possible to investigate your individual genetic code.



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