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  • Title: Sequence analysis of the genes encoding for H+/K+-ATPase in autoimmune gastritis.
    Author: Oksanen AM, Lemmelä SM, Järvelä IE, Rautelin HI.
    Journal: Ann Med; 2006; 38(4):287-93. PubMed ID: 16754260.
    Abstract:
    BACKGROUND: H+/K+-ATPase is the target autoantigen in autoimmune gastritis (AIG), an organ-specific autoimmune disease with a strong hereditary component. AIM: To detect possible polymorphisms in H+/K+-ATPase alpha- and beta-subunits in AIG patients. METHODS: Blood samples from 12 Finnish AIG patients were sequenced for the coding regions of genes encoding for H+/K+-ATPase alpha- and beta-subunits; 50-52 Finnish anonymous blood donors served as controls. Additionally, parietal cell and Helicobacter pylori antibodies and serum pepsinogen I levels (PG I) were analysed. RESULTS: In the alpha-subunit, all patients and controls had C-allele at the non-synonymous c.824T>C single nucleotide polymorphism (SNP) resulting in valine substitution for alanine (Val265Ala). In the beta-subunit, a previously unknown non-synonymous SNP resulting in a substitution of alanine residue for valine (Ala248Val) was found in exon 7 in a single patient and none of the controls. All patients had low serum PG I levels and elevated parietal cell antibodies; three had positive H. pylori serology. CONCLUSIONS: At the non-synonymous SNP c.824T>C in the alpha-subunit of H+/K+-ATPase most Finnish individuals with or without AIG have C allele. Genetic variants of the coding regions of genes for H+/K+-ATPase alpha- and beta-subunits are not associated with AIG in Finnish patients.
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