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    In: European Journal of Gastroenterology & Hepatology, Ovid Technologies (Wolters Kluwer Health), Vol. 28, No. 6 ( 2016-06), p. 689-695
    Abstract: Although an eight-residue insertion in HLA-DQβ1 has been recently identified as a genetic risk factor for idiopathic achalasia, other risk factors are still unknown. In the present study, we carried out an epidemiological survey and a genotype–phenotype (G×P) analysis to gain further insights into the etiology of achalasia. Methods We obtained medical data from 696 achalasia patients and 410 controls, as well as their first-degree relatives (2543 of patients and 1497 of controls). For the G×P analysis, we stratified the patients into HLA-DQβ1 insertion carriers and noncarriers. Results Our data show that patients are more often affected by viral infections before achalasia onset ( P 〈 0.0001, most significantly for varicella zoster virus infections). In addition, allergic ( P =0.0005) and autoimmune disorders ( P =0.0007, most significantly for psoriasis and Sjögren’s syndrome) represent comorbid disease conditions. First-degree relatives of patients also show higher prevalence rates of allergic disorders ( P =0.0007) and psoriasis ( P =0.016) compared with control relatives. Moreover, the G×P analysis reveals that achalasia is triggered by pregnancies in female HLA-DQβ1 insertion carriers ( P =0.031). Conclusion Our data point to a role of viral infections in the development of achalasia. In addition, they provide evidence for a relationship between achalasia and allergic, as well as autoimmune, disorders. Furthermore, pregnancy seems to be a disease-triggering factor in female HLA-DQβ1 insertion carriers, which points to hormonal and/or immunosuppressive factors influencing disease development.
    Type of Medium: Online Resource
    ISSN: 0954-691X
    Language: English
    Publisher: Ovid Technologies (Wolters Kluwer Health)
    Publication Date: 2016
    detail.hit.zdb_id: 2030291-5
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