Sequence analysis of the genes encoding for H+/K+-ATPase in autoimmune gastritis.

Autor:	Oksanen AM; Herttoniemi Municipal Hospital, and Department of Medical Genetics, University of Helsinki, Finland. aino.oksanen@hel.fi, Lemmelä SM, Järvelä IE, Rautelin HI
Jazyk:	angličtina
Zdroj:	Annals of medicine [Ann Med] 2006; Vol. 38 (4), pp. 287-93.
DOI:	10.1080/07853890600673260
Abstrakt:	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.
Databáze:	MEDLINE
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