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Cholangiocarcinoma is a rare, sporadic and aggressive type of cancer. The genetic basis of cholangiocarcinoma remains poorly understood. The present study investigated the prognostic role of the N-acetylgalactosaminyltransferase 14 ( GALNT14 )-rs9679162 genotype, an effective therapeutic response predictor for hepatocellular carcinoma in patients with cholangiocarcinoma receiving surgical resection. A cohort of patients with intrahepatic or perihilar cholangiocarcinoma (n=112) were retrospectively recruited. Of these patients, 31.3, 49.1 and 19.6% had GALNT14 'TT', 'TG' and 'GG' genotypes, respectively. The patient's genotype distributions did not deviate significantly from those of the ethnic reference cohorts, HapMap-Chinese Han Beijing and Chinese Han Metropolitan Denver. The genotype 'TT' was associated with unfavorable overall survival in univariate analysis (P=0.023). Furthermore, two tumor characteristics, perineural and vascular invasion, were independently associated with unfavorable overall survival (P=0.001 and P=0.002, respectively). The 'TT' genotypes were independently associated with two known predictors of unfavorable prognosis, perineural invasion (P=0.035) and lymph node metastasis (P=0.005) in a multivariate linear regression analysis. When compared with the two reference genotype cohorts, the 'TT' genotype was significantly higher in patients with perineural invasion (P=0.049, Beijing cohort; P=0.034, Denver cohort). Similar enrichment of the 'TT' genotype was also revealed in patients with lymph node metastasis (P=0.046, Beijing cohort; P=0.032 Denver cohort). In conclusion, the G ALNT14 -rs9679162 'TT' genotype was associated with perineural invasion and lymph node metastasis, as well as unfavorable overall survival in patients with resected cholangiocarcinoma.

GALNT14 genotype is associated with perineural invasion, lymph node metastasis and overall survival in resected cholangiocarcinoma