Identification of genetic risk factors underlying complex multifactorial phenotypes.

摘要

We read with great interest the recent publication "Bilateral consecutive rupture of the quadriceps tendon in a man with BstUI polymorphism of the COL5A1 gene" [6]. In this case study, the authors describe the single case of a 46-year-old man with bilateral quadriceps tendon ruptures. It is reported that the most important finding of the study was that ".. .the polymorphism of the COL5A1 (the variant rsl2722, BstUI RFLP) was found in a patient with bilateral quadriceps tendon ruptures" [6]. This statement may be unclear to readers, since the investigated polymorphism (rs 12722) is commonly found within the general population (http://www.ncbi.nlm.nih.gov/snp, accessed 17 March 2010) [8].