Genetic polymorphisms related to the vitamin D pathway in patients with cirrhosis with or without hepatocellular carcinoma (HCC).

Objective: To evaluate the association of genetic polymorphisms of vitamin D transporter protein ( and ) and cytochrome P450-24A1 () in patients with cirrhosis with or without hepatocellular carcinoma (HCC), including demographic/clinical/biochemical profiles.

Methods: A total of 383 individuals were studied, considering the total group (TotalG) of patients with cirrhosis (TotalG: = 158) with or without HCC, distributed into Group 1 (G1): cirrhosis and HCC; Group 2 (G2): isolated cirrhosis; and 225 individuals without hepatopathies (G3). Polymorphisms were analysed by real-time polymerase chain reaction. An alpha error of 5% was admitted.

Results: predominated the genotype with at least one polymorphic allele (_/T) in G1 (98.3%) versus G2 (88.8%; = 0.0309). There was a moderate positive correlation between vitamin D and parathyroid hormone in patients (TotalG: = 0.3273). Smoking, alcoholism and diabetes mellitus (DM) stood out as independent factors for cirrhosis, as well as for cirrhosis with HCC, except for smoking, adding, in this case, advanced age, male gender, polymorphic allele of , viral hepatitis and high levels of serum gamma-glutamyl transferase (GGT), alpha-fetoprotein (AFP) and creatinine. An increase in survival was observed in the presence of the polymorphic allele of ( = 0.0282).

Conclusion: is associated with cirrhosis and HCC as a predictor, while is associated with reduced vitamin D, and provides increased survival, suggesting a protective characteristic. Advanced age, alcoholism, DM, viral hepatitis and high levels of GGT, AFP and creatinine are also confirmed as predictors of HCC and cirrhosis, while smoking, alcoholism and DM for isolated cirrhosis only.