Non-alcoholic steatohepatitis (NASH) is an acquired liver disease generally related to a metabolic cause, where liver damage is exactly the same as observed in alcoholic liver disease and where serum and hepatic iron are usually elevated.

In order to determine whether there is an association between some genetic mutations in alcohol metabolising related enzymes or in the iron metabolism proteins and NASH, we investigated the presence of mutations R47H and R369C of ADH2, E487K of ALDH2, Rsa I and Pst I restriction sites in the 5' flanking region of CYP2E1 and H63D, S65C and C282Y of HFE genes in 29 Spanish patients with NASH diagnostic.

Mutations were tested by PCR amplification followed by Single Nucleotide Polymorphisms (SNP's) approach in ADH2, ALDH2 and CYP2E1 genes or RFLP in HFE gene.

R47H mutation of ADH2, E487K mutation of ALDH2, Pst I restriction site of CYP2E1, S65C and C282Y of HFE genes were not detected in any of the patients. In the other hand, R369C mutation of ADH2 was found in heterozygosis in 5 of the 29 patients analysed, Rsa I restriction site of CYP2E1 was detected in 1 patient and H63D mutation of HFE was found in 1 and 9 patients in homozygosis and heterozygosis, respectively.

These results show that the mutations analysed are not involved in NASH, as reflect the low frequency, suggesting the investigation of new mutations in these or other candidate genes, as TNF-alpha.