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In genetics the ability to accurately describe the familial relationships among a group of individuals can be very useful. Recent statistical tools succeeded in assessing the degree of relatedness up to 6-7 generations with good power using dense genome-wide single-nucleotide polymorphism data to estimate the extent of identity-by-descent (IBD) sharing. It is therefore important to describe genome-wide patterns of IBD sharing for more remote and complex relatedness between individuals, such as that observed in a founder population like Quebec, Canada. Taking advantage of the extended genealogical records of the French Canadian founder population, we first compared different tools to identify regions of IBD in order to best describe genome-wide IBD sharing and its correlation with genealogical characteristics. Results showed that the extent of IBD sharing identified with FastIBD correlates best with relatedness measured using genealogical data. Total length of IBD sharing explained 85% of the genealogical kinship's variance. In addition, we observed significantly higher sharing in pairs of individuals with at least one inbred ancestor compared with those without any. Furthermore, patterns of IBD sharing and average sharing were different across regional populations, consistent with the settlement history of Quebec. Our results suggest that, as expected, the complex relatedness present in founder populations is reflected in patterns of IBD sharing. Using these patterns, it is thus possible to gain insight on the types of distant relationships in a sample from a founder population like Quebec.
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http://dx.doi.org/10.1038/ejhg.2013.227 | DOI Listing |
Brief Funct Genomics
January 2025
School of Mathematics and Statistics, Henan University of Science and Technology, No. 263 Kaiyuan Avenue, Luolong District, Luoyang, Henan 471000, China.
Background: Comorbidities and genetic correlations between gastrointestinal tract diseases and psychiatric disorders have been widely reported, but the underlying intrinsic link between Alzheimer's disease (AD) and inflammatory bowel disease (IBD) is not adequately understood.
Methods: To identify pathogenic cell types of AD and IBD and explore their shared genetic architecture, we developed Pathogenic Cell types and shared Genetic Loci (PCGL) framework, which studied AD and IBD and its two subtypes of ulcerative colitis (UC) and Crohn's disease (CD).
Results: We found that monocytes and CD8 T cells were the enriched pathogenic cell types of AD and IBDs, respectively.
J Crohns Colitis
September 2025
Laboratory for Complex Genetics, Department of Human Genetics, KU Leuven, Leuven, Belgium.
Background And Aims: Inflammatory bowel disease (IBD) often affects multiple relatives, pointing towards shared genetic and/or environmental factors. This study evaluates the importance of known IBD risk variants, and of genetic determinants of smoking in such multiplex families.
Methods: We studied 65 IBD multiplex families, comprising 146 Crohn's disease [CD], 33 ulcerative colitis [UC], and 111 unaffected relatives.
Eur J Gastroenterol Hepatol
July 2025
Department of Gastroenterology, University Hospital of Heraklion, Greece.
Objective: Most of the existing instruments assessing quality of care (QoC) are based on the perception of healthcare providers that may differ from that of healthcare users. We aimed to measure QoC through the patient's eyes in a Greek cohort of patients with inflammatory bowel disease (GR QUOTE-IBD) and to investigate putative sociodemographic and disease-related QoC predictors.
Methods: GR QUOTE-IBD questionnaire was delivered to patients at their regular follow-up visit, and adequate time was offered to fill it in.
Int J Mol Sci
August 2025
Department of Gastroenterology and Hepatology, University Hospital Zurich, 8091 Zurich, Switzerland.
Inflammatory bowel disease (IBD) and primary sclerosing cholangitis (PSC) are chronic immune-mediated inflammatory diseases (IMIDs) that affect the gastrointestinal and hepatobiliary systems. They are characterized by persistent inflammation, potentially progressive fibrosis, and an elevated risk of developing cholangiocarcinoma and colorectal cancer. IBD and PSC share phenotypical, genetic, and immunological features, largely due to the central role of immune cell dysregulation.
View Article and Find Full Text PDFBiomedicines
July 2025
Division of Gastroenterology, Department of Internal Medicine, Faculty of Medicine, School of Health Sciences, University of Ioannina, 45110 Ioannina, Greece.
Hidradenitis suppurativa (HS) and inflammatory bowel disease (IBD), including Crohn's disease (CD) and ulcerative colitis (UC), are chronic, immune-mediated conditions with significant impact on quality of life. Emerging evidence reveals a notable epidemiological and pathogenic overlap between HS and IBD, particularly CD. Although a bidirectional association between HS and IBD has been well documented, current evidence supports a causal effect of IBD on the development of HS, while a causal relationship in the opposite direction has yet to be established.
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