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

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.

journal_name

Ann Med

journal_title

Annals of medicine

authors

Oksanen AM,Lemmelä SM,Järvelä IE,Rautelin HI

doi

10.1080/07853890600673260

subject

Has Abstract

pub_date

2006-01-01 00:00:00

pages

287-93

issue

4

eissn

0785-3890

issn

1365-2060

pii

TL5P80161M17718W

journal_volume

38

pub_type

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