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• W2605211271 abstract "Genetic and environmental factors contribute to the development of celiac disease (CD), but specific genetic predisposing factors remain poorly understood. One candidate is allele 2 of the hs1.2 enhancer within the immunoglobulin heavy chain region. In humans, there are four possible alleles and a previous study of an Italian cohort demonstrated a significantly increased frequency of allele 2 in patients with CD.The purpose of the current study was to determine if a similar association between allele 2 and CD exists in an American population from Dayton, OH.Subjects were screened for CD via esophagogastroduodenoscopy with duodenal biopsy. All biopsies were microscopically scored using a modified Marsh-Oberhuber classification. DNA was isolated from patients' buccal cells for hs1.2 genotype analysis using PCR.Unlike the Italian cohort, allele 2 frequency was not significantly different in patients with histopathologic evidence of CD compared to patients without such evidence. However, our patient population as a whole demonstrated a significantly increased allele 2 frequency when compared to that previously reported within diverse ethnic populations.Since our comparative control patients do not necessarily reflect a healthy control population, an overall increase in allele 2 may reflect an association between allele 2 of the hs1.2 enhancer and a spectrum of gastrointestinal disorders." @default.
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• W2605211271 date "2017-08-01" @default.
• W2605211271 modified "2023-10-17" @default.
• W2605211271 title "Allelic frequencies of the hs1.2 enhancer within the immunoglobulin heavy chain region in Dayton, Ohio patients screened for celiac disease with duodenal biopsy" @default.
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• W2605211271 doi "https://doi.org/10.1016/j.dld.2017.03.023" @default.
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