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Your search keyword '"Agnieszka M. Rygiel"' showing total 2 results
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2 results on '"Agnieszka M. Rygiel"'

1. The Y-chromosome F haplogroup contributes to the development of Barrett’s esophagus-associated esophageal adenocarcinoma in a white male population

Author

A.L. Roes, S Ouburg, K. K. Krishnadath, Servaas A. Morré, Agnieszka M. Rygiel, Sjoerd Repping, Maikel P. Peppelenbosch, L.M.G. Moons, Michael Jacobs, W.M. Westra, Kevin Wang, N. Mostafavi, G.M.J. de Wit, Peter D. Siersema, Medical Microbiology and Infection Prevention, CCA - Cancer biology and immunology, Pathology, Gastroenterology & Hepatology, Institute for Public Health Genomics, RS: GROW - R4 - Reproductive and Perinatal Medicine, Gastroenterology and Hepatology, Graduate School, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam Reproduction & Development (AR&D), and APH - Personalized Medicine

Subjects
Male, Esophageal Neoplasms, esophageal adenocarcinoma, gastroesophageal reflux disease, SUSCEPTIBILITY, Gastroenterology, DISEASE, Haplogroup, Tumours of the digestive tract Radboud Institute for Health Sciences [Radboudumc 14], Barrett s esophagus, 0302 clinical medicine, Risk Factors, Barrett’s esophagus, MUTATION, 0303 health sciences, education.field_of_study, General Medicine, humanities, medicine.anatomical_structure, Cohort, Original Article, 030211 gastroenterology & hepatology, medicine.medical_specialty, CARCINOMA, Population, Adenocarcinoma, Chromosomes, Barrett Esophagus, Barrett's esophagus, 03 medical and health sciences, Y-chromosome haplogroup, genetic polymorphisms, Internal medicine, medicine, Humans, Esophagus, Risk factor, education, AcademicSubjects/MED00260, 030304 developmental biology, Chromosomes, Human, Y, business.industry, DELETION, Odds ratio, medicine.disease, POLYMORPHISM, Haplotypes, RISK-FACTORS, GERD, CIGARETTE-SMOKING, business
Abstract

Contains fulltext : 225282.pdf (Publisher’s version ) (Open Access) Barrett's esophagus (BE) is a metaplastic condition of the distal esophagus, resulting from longstanding gastroesophageal reflux disease (GERD). BE predisposes for the highly malignant esophageal adenocarcinoma (EAC). Both BE and EAC have the highest frequencies in white males. Only a subset of patients with GERD develop BE, while

Published
2020
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2. Vitamin D Receptor Polymorphisms Are Associated with Reduced Esophageal Vitamin D Receptor Expression and Reduced Esophageal Adenocarcinoma Risk

Author

Kausilia K. Krishnadath, Pascal P. Arp, Leon M G Moons, Vincent T. Janmaat, André G. Uitterlinden, Luc J. W. van der Laan, Agnieszka M. Rygiel, Hugo W. Tilanus, Farzin Pourfarzad, Maikel P. Peppelenbosch, Manon C.W. Spaander, Anouk van de Winkel, Ernst J. Kuipers, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, CCA -Cancer Center Amsterdam, Gastroenterology and Hepatology, Gastroenterology & Hepatology, Internal Medicine, Cell biology, and Surgery

Subjects
Male, Esophageal Neoplasms, Calcitriol receptor, GATA1 Transcription Factor, Genetics (clinical), Regulation of gene expression, Aged, 80 and over, Gene Expression Regulation, Leukemic, Articles, Middle Aged, Molecular Medicine, Adenocarcinoma, Female, Protein Binding, Adult, medicine.medical_specialty, Adolescent, Genotype, Molecular Sequence Data, Single-nucleotide polymorphism, Biology, Polymorphism, Single Nucleotide, Young Adult, SDG 3 - Good Health and Well-being, Internal medicine, Genetics, medicine, Vitamin D and neurology, Journal Article, Humans, Genetic Predisposition to Disease, Reflux esophagitis, Allele, Nucleotide Motifs, Molecular Biology, Alleles, Aged, Binding Sites, Mucous Membrane, Base Sequence, Haplotype, medicine.disease, Introns, Endocrinology, Haplotypes, Case-Control Studies, Receptors, Calcitriol, Sequence Alignment
Abstract

Epidemiological studies indicate that vitamin D exerts a protective effect on the development of various solid cancers. However, concerns have been raised regarding the potential deleterious role of high vitamin D levels in the development of esophageal adenocarcinoma (EAC). This study investigated genetic variation in the vitamin D receptor (VDR) in relation to its expression and risk of Barrett esophagus (BE) and EAC. VDR gene regulation was investigated by immunohistochemistry, reverse transcriptase-polymerase chain reaction (RT-PCR) and gel shift assays. Fifteen haplotype tagging single-nucleotide polymorphisms (SNPs) of the VDR gene were analyzed in 858 patients with reflux esophagitis (RE), BE or EAC and 202 healthy controls. VDR mRNA expression was higher in BE compared with squamous epithelium. VDR protein was located in the nucleus in BE. An rs1989969T/rs2238135G haplotype was identified in the 5' regulatory region of the VDR gene. It was associated with an approximately two-fold reduced risk of RE, BE and EAC. Analysis of a replication cohort was done for BE that confirmed this. The rs1989969T allele causes a GATA-1 transcription factor binding site to appear. The signaling of GATA-1, which is regarded as a negative transcriptional regulator, could explain the findings for rs1989969. The rs2238135G allele was associated with a significantly reduced VDR expression in BE; for the rs1989969T allele, a trend in reduced VDR expression was observed. We identified a VDR haplotype associated with reduced esophageal VDR expression and a reduced incidence of RE, BE and EAC. This VDR haplotype could be useful in identifying individuals who benefit most from vitamin D chemoprevention.

Published
2015
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