Jing Liu1, Rebecca A Law1, Paul G Koles2, Jonathan C Saxe3, Michael Bottomley4, Courtney E W Sulentic5. 1. Department of Pharmacology & Toxicology, Wright State University, Dayton, OH, United States. 2. Department of Pathology, Wright State University, Dayton, OH, United States. 3. Department of Medicine, Wright State University, Dayton, OH, United States; Dayton Gastroenterology, Dayton, OH, United States. 4. Boonshoft School of Medicine and the Statistical Consulting Center, Wright State University, Dayton, OH, United States. 5. Department of Pharmacology & Toxicology, Wright State University, Dayton, OH, United States. Electronic address: courtney.sulentic@wright.edu.
Abstract
BACKGROUND: 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. AIMS: 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. METHODS: 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. RESULTS: 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. CONCLUSIONS: 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.
BACKGROUND: 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. AIMS: 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. METHODS: 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. RESULTS: 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. CONCLUSIONS: 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.
Authors: V Giambra; C Martínez-Labarga; M Giufré; D Modiano; J Simporé; B K Gisladottir; R Francavilla; G Zhelezova; S S Kilic; M Crawford; G Biondi; O Rickards; D Frezza Journal: Ann Hum Genet Date: 2006-11 Impact factor: 1.670
Authors: Tharu M Fernando; Sharon D Ochs; Jing Liu; Ruth C Chambers-Turner; Courtney E W Sulentic Journal: J Immunol Date: 2012-02-22 Impact factor: 5.422
Authors: D Frezza; V Giambra; R Cianci; A Fruscalzo; M Giufrè; G Cammarota; C Martìnez-Labarga; O Rickards; G Scibilia; C Sferlazzas; F Bartolozzi; S Starnino; G Magazzù; G B Gasbarrini; F Pandolfi Journal: Scand J Gastroenterol Date: 2004-11 Impact factor: 2.423
Authors: Ning Wang; Lennart Truedsson; Kerstin Elvin; Bengt A Andersson; Johan Rönnelid; Lucia Mincheva-Nilsson; Annica Lindkvist; Jonas F Ludvigsson; Lennart Hammarström; Charlotte Dahle Journal: PLoS One Date: 2014-04-07 Impact factor: 3.240