Sequence analysis of the genes encoding for H+/K+-ATPase in autoimmune gastritis
Sequence analysis of the genes encoding for H+/K+-ATPase in autoimmune gastritis
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DOI：
10.1080/07853890600673260
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发表时间：
2006-01-01
影响因子：
4.4
通讯作者：
Rautelin, Hilpi I.
中科院分区：
文献类型：
--
作者：
Oksaneni, Aino M.;Lemmela, Susanna M.;Rautelin, Hilpi I.
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 a-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 nonsynonymous 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.
