The Brachyury Gly177Asp SNP Is not Associated with a Risk of Skull Base Chordoma in the Chinese Population

• Main Authors: Zhen Wu, Ke Wang, Liang Wang, Jie Feng, Shuyu Hao, Kaibing Tian, Liwei Zhang, Guijun Jia, Hong Wan, Junting Zhang
• Format: Article
• Language: English
• Published: MDPI AG 2013-10-01
• Series: International Journal of Molecular Sciences
• Subjects: skull-base chordoma; brachyury gene; rs2305089; single-nucleotide polymorphism
• Online Access: http://www.mdpi.com/1422-0067/14/11/21258

A recent chordoma cancer genotyping study reveals that the rs2305089, a single nucleotide polymorphism (SNP) located in brachyury gene and a key gene in the development of notochord, is significantly associated with chordoma risk. The brachyury gene is believed to be one of the key genes involved in the pathogenesis of chordoma, a rare primary bone tumor originating along the spinal column or at the base of the skull. The association between the brachyury Gly177Asp single nucleotide polymorphism (SNP) and the risk of skull base chordoma in Chinese populations is currently unknown. We investigated the genotype distribution of this SNP in 65 skull-base chordoma cases and 120 healthy subjects. Comparisons of the genotype distributions and allele frequencies did not reveal any significant difference between the groups. Our data suggest that the brachyury Gly177Asp SNP is not involved in the risks of skull-base chordoma, at least in the Chinese population.