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 Medjournal_title
Annals of medicineauthors
Oksanen AM,Lemmelä SM,Järvelä IE,Rautelin HIdoi
10.1080/07853890600673260subject
Has Abstractpub_date
2006-01-01 00:00:00pages
287-93issue
4eissn
0785-3890issn
1365-2060pii
TL5P80161M17718Wjournal_volume
38pub_type
杂志文章abstract::The WHO Multinational Monitoring of Trends and Determinants in Cardiovascular Disease (MONICA) Project was initiated in the early 1980s with the main objective of assessing the extent to which trends in coronary heart disease and cerebrovascular disease are related to changes in known risk factors, daily living habits...
journal_title:Annals of medicine
pub_type: 杂志文章
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pub_type: 临床试验,杂志文章,多中心研究,随机对照试验
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journal_title:Annals of medicine
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