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Article
Open AccessPolymorphisms in transcription factor binding sites and enhancer regions and pancreatic ductal adenocarcinoma risk
Genome-wide association studies (GWAS) are a powerful tool for detecting variants associated with complex traits and can help risk stratification and prevention strategies against pancreatic ductal adenocarcin...
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Article
Open AccessEvaluation of inherited germline mutations in cancer susceptibility genes among pancreatic cancer patients: a single-center study
Germline mutations in cancer susceptibility genes were identified in pancreatic cancer (PanC) patients with a sporadic disease and in those unselected for family cancer history.
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Article
Open AccessDroplet digital PCR quantification of miR-1290 as a circulating biomarker for pancreatic cancer
Droplet digital PCR was used to validate miR-1290 as circulating biomarker for pancreatic cancer (PC). The diagnostic performance of miR-1290 was evaluate in 167 PC patients and 267 healthy subjects at clinica...
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Article
Vitamin D receptor gene polymorphisms/haplotypes and serum 25(OH)D3 levels in Hashimoto’s thyroiditis
Vitamin D deficiency and/or reduced function, as per certain polymorphisms of the vitamin D receptor (VDR) gene, have been related to several autoimmune disorders. The present study was aimed to investigate th...
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Article
Open AccessGene expression of muscular and neuronal pathways is cooperatively dysregulated in patients with idiopathic achalasia
Idiopathic achalasia is characterized by the absence of peristalsis secondary to loss of neurons in the myenteric plexus that hampers proper relaxation of the lower esophageal sphincter. Achalasia can be consi...
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Article
Host–microbe interactions have shaped the genetic architecture of inflammatory bowel disease
A meta-analysis of previous genome-wide association studies of Crohn’s disease and ulcerative colitis, the two most common forms of inflammatory bowel disease, with a combined total of more than 75,000 cases a...
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Article
Correction: Corrigendum: Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47
Nat. Genet. 43, 246–252 (2011); published online 6 February 2011; corrected after print 11 August 2011 In the version of this article initially published, an affiliation was missing for two authors, Maria Gazo...
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Article
Erratum: Genome-wide association identifies multiple ulcerative colitis susceptibility loci
Nat. Genet. 42, 332–337 (2010); published online 14 March 2010; corrected after print 29 March 2011 In the version of this article initially published, Kathryn Roeder's affiliation was incorrect. Her correct a...
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Article
Open AccessRS-SNP: a random-set method for genome-wide association studies
The typical objective of Genome-wide association (GWA) studies is to identify single-nucleotide polymorphisms (SNPs) and corresponding genes with the strongest evidence of association (the 'most-significant SN...
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Article
Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47
John Rioux and colleagues report results of a large genome-wide association meta-analysis and follow-up study of ulcerative colitis. They identify 29 new risk loci for this inflammatory disease and show that m...
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Article
Genome-wide association identifies multiple ulcerative colitis susceptibility loci
Mark Seielstad and colleagues report results of a large genome-wide association and replication study of ulcerative colitis. The work identifies several new risk loci for this disease and provides further insi...
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Chapter and Conference Paper
Prediction of Crohn’s Disease by Profiles of Single Nucleotide Polymorphisms
This paper focuses on the comparison of two different approaches to the analysis of Single Nucleotide Polymorphism (SNP) profiles data regarding Crohn’s Disease; the first one is based on a single SNP analysis...
