Abstract 4179: Mitochondrial DNA haplogroup M7b/c associated with the clinical outcome of OSCC in Taiwan

Abstract

Abstract A large volume of studies have indicated that polymorphisms in the mitochondrial genome are associated with risk of various diseases, including cancer. However, only few studies examined the effect of polymorphisms on cancer outcome. To explore the possible role of mitochondrial polymorphisms on clinical outcome of oral squamous cell carcinomas (OSCCs) in Taiwan, whole mitochondrial genome was genotyped by DNA direct sequencing and haplogroup was defined using HaploGrep program in 305 OSCCs. One hundred and sixty-five variant sites with minor allele frequency (MAF) >3 % were found in our study. Among them, 6 variant sites (1 mtLP in HVR2 and 5 SNPs at T204C, C4071T, C4850T, T16311C, T16362C) were associated with overall survival. An index score designated as the total effects of the genotypes of these 6 variant sites on survival for each individual was also developed using the estimates from the Cox model. We found that individual with the higher index score had the poorer disease-free and overall survival. In addition, an association between Asian specific haplogroup M7b/c (containing C4071T variant) and poor overall survival was observed. In conclusion, the findings provide the first evidence pointing toward mitochondrial variants affect the clinical outcome in OSCC. Citation Format: {Authors}. {Abstract title} [abstract]. In: Proceedings of the 102nd Annual Meeting of the American Association for Cancer Research; 2011 Apr 2-6; Orlando, FL. Philadelphia (PA): AACR; Cancer Res 2011;71(8 Suppl):Abstract nr 4179. doi:10.1158/1538-7445.AM2011-4179