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Genome-wide Studies Reveal Genetic Risk Factors for Hepatic Fat Content

GENOMICS PROTEOMICS & BIOINFORMATICS 2024年第2期22卷 qzae031页

作者： Li, Yanni van den Berg, Eline H. Kurilshikov, Alexander Zhernakova, Dasha, V Gacesa, Ranko Hu, Shixian Lopera-Maya, Esteban A. Zhernakova, Alexandra de Meijer, Vincent E. Sanna, Serena Dullaart, Robin P. F. Blokzijl, Hans festen, eleonora A. M. Fu, Jingyuan Weersma, Rinse K. Univ Groningen Univ Med Ctr Groningen Dept Gastroenterol & Hepatol NL-9713 GZ Groningen Netherlands Univ Groningen Univ Med Ctr Groningen Dept Genet NL-9713 GZ Groningen Netherlands Tianjin Med Univ Tianjin Med Univ Gen Hosp Dept Gastroenterol & Hepatol Tianjin 300052 Peoples R China Sun Yat Sen Univ Affiliated Hosp 1 Inst Precis Med Guangzhou 510080 Peoples R China ITMO Univ Ctr Comp Technol Lab Genom Divers St Petersburg 199034 Russia Univ Groningen Univ Med Ctr Groningen Dept Pediat NL-9713 GZ Groningen Netherlands Univ Groningen Univ Med Ctr Groningen Dept Surg Sect Hepatobiliary Surg & Liver Transplantat NL-9713 GZ Groningen Netherlands Univ Groningen Univ Med Ctr Groningen Dept Endocrinol NL-9713 GZ Groningen Netherlands

Genetic susceptibility to metabolic associated fatty liver disease (MAFLD) is complex and poorly characterized. Accurate characterization of the genetic background of hepatic fat content would provide insights into disease etiology and causality of risk factors. We performed genome-wide association study (GWAS) on two noninvasive definitions of hepatic fat content: magnetic resonance imaging proton density fat fraction (MRI-PDFF) in 16,050 participants and fatty liver index (FLI) in 388,701 participants from the United Kingdom (UK) Biobank (UKBB). Heritability, genetic overlap, and similarity between hepatic fat content phenotypes were analyzed, and replicated in 10,398 participants from the University Medical Center Groningen (UMCG) Genetics Lifelines Initiative (UGLI). Meta-analysis of GWASs of MRI-PDFF in UKBB revealed five statistically significant loci, including two novel genomic loci harboring CREB3L1 (rs72910057-T, P = 5.40E-09) and GCM1 (rs1491489378-T, P = 3.16E-09), respectively, as well as three previously reported loci: PNPLA3, TM6SF2, and APOE. GWAS of FLI in UKBB identified 196 genome-wide significant loci, of which 49 were replicated in UGLI, with top signals in ZPR1 (P = 3.35E-13) and FTO (P = 2.11E-09). Statistically significant genetic correlation (rg) between MRI-PDFF (UKBB) and FLI (UGLI) GWAS results was found (rg = 0.5276, P = 1.45E-03). Novel MRI-PDFF genetic signals (CREB3L1 and GCM1) were replicated in the FLI GWAS. We identified two novel genes for MRI-PDFF and 49 replicable loci for FLI. Despite a difference in hepatic fat content assessment between MRI-PDFF and FLI, a substantial similar genetic architecture was found. FLI is identified as an easy and reliable approach to study hepatic fat content at the population level.

关键词： Hepatic fat content MAFLD Genome-wide association study Fatty liver index Magnetic resonance imaging proton density fat fraction LIVER-DISEASE ASSOCIATION VARIANT LOCI SUSCEPTIBILITY PATHOGENESIS INSIGHTS TARGETS ENZYMES CONFERS

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Predicting(side) effects for patients with inflammatory bowel disease: The promise of pharmacogenetics

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World Journal of Gastroenterology 2019年第21期25卷 2539-2548页

作者： Michiel Dirk Voskuil Amber Bangma Rinse Karel Weersma eleonora Anna Margaretha festen Department of Gastroenterology and Hepatology University of Groningen and University Medical Center GroningenGroningen 9713 GZthe Netherlands Department of Genetics University of Groningen and University Medical Center GroningenGroningen 9713 GZthe Netherlands

Inflammatory bowel disease (IBD) is a chronic and heterogeneous intestinal inflammatory disorder. The medical management of IBD aims for long-lasting disease remission to prevent complications and disease progression. Early introduction of immunosuppression forms the mainstay of medical IBD management. Large inter-individual variability in drug responses, in terms of both efficacy and toxicity, leads to high rates of therapeutic failure in the management of IBD. Better patient stratification is needed to maximize patient benefit and minimize the harm caused by adverse events. Pre-treatment pharmacogenetic testing has the potential to optimize drug selection and dose, and to minimize harm caused by adverse drug reactions. In addition, optimizing the use of cheap conventional drugs, and avoiding expensive ineffective drugs, will lead to a significant reduction in costs. Genetic variation in both TPMT and NUDT15, genes involved in thiopurine metabolism, is associated to an increased risk of thiopurine-induced myelosuppression. Moreover, specific HLA haplotypes confer risk to thiopurine-induced pancreatitis and to immunogenicity to tumor necrosis factor-antagonists, respectively. Falling costs and increased availability of genetic tests allow for the incorporation of pre-treatment genetic tests into clinical IBD management guidelines. In this paper, we review clinically useful pharmacogenetic associations for individualized treatment of patients with IBD and discuss the path from identification of a predictive pharmacogenetic marker to implementation into IBD clinical care.

关键词： Inflammatory bowel disease Crohn’s disease Ulcerative colitis Pharmacogenetics Personalized medicine

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Performance of the Montreal classification for inflammatory bowel diseases

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World Journal of Gastroenterology 2014年第41期20卷 15374-15381页

作者： Lieke M Spekhorst Marijn C Visschedijk Rudi Alberts eleonora a festen Egbert-Jan van der Wouden Gerard Dijkstra Rinse K Weersma Department of Gastroenterology and Hepatology University of Groningen and University Medical Centre Groningen Department of Genetics University of Groningen and University Medical Centre Groningen Department of Gastroenterology Isala Clinics Zwolle

AIM: To validate the Montreal classification system for Crohn’s disease (CD) and ulcerative colitis (UC) within the Netherlands.

关键词： Crohn’ s disease Ulcerative colitis Montreal classification Phenotypes- inter-observer agreement

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Prevalence of-and risk factors for work disability in Dutch patients with inflammatory bowel disease

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World Journal of Gastroenterology 2017年第46期23卷 8182-8192页

作者： Lieke M Spekhorst Bas Oldenburg Ad A van Bodegraven Dirk J de Jong Floris Imhann Andrea E van der Meulen-de Jong Marieke J Pierik Janneke C van der Woude Gerard Dijkstra Geert D'Haens Mark Lowenberg Rinse K Weersma eleonora AM festen 无 Department of Gastroenterology and Hepatology University of Groningen and University Medical Centre Groningen Department of Genetics University of Groningen and University Medical Centre Groningen Department of Gastroenterology and Hepatology University Medical Center Utrecht Department of Gastroenterology and Hepatology VU University Medical Center Department of Gastroenterology and Hepatology University Medical Center St. Radboud Department of Gastroenterology and Hepatology Leiden University Medical Center Department of Gastroenterology and Hepatology University Medical Center Maastricht Department of Gastroenterology and Hepatology Erasmus Medical Center Department of Gastroenterology and Hepatology Amsterdam Medical Center Parelsnoer Institute and the Dutch Initiative on Crohn and Colitis

AIM To determine the prevalence of work disability in inflammatory bowel disease(IBD), and to assess risk factors associated with work *** For this retrospective cohort study, we retrieved clinical data from the Dutch IBD Biobank on July 2014, containing electronic patient records of 3388 IBD patients treated in the eight University Medical Centers in the Netherlands. Prevalence of work disability was assessed in 2794 IBD patients and compared with the general Dutch population. Multivariate analyses were performed for work disability(sick leave, partial and full disability) and long-term full work disability(> 80% work disability for > 2 years).RESULTS Prevalence of work disability was higher in Crohn's disease(CD)(29%) and ulcerative colitis(UC)(19%) patients compared to the general Dutch population(7%). In all IBD patients, female sex, a lower education level, and extra-intestinal manifestations, were associated with work disability. In CD patients, an age > 40 years at diagnosis, disease duration > 15 years,smoking, surgical interventions, and anti-TNFα use were associated with work disability. In UC patients, an age > 55 years, and immunomodulator use were associated with work disability. In CD patients, a lower education level(OR = 1.62, 95%CI: 1.02-2.58), and in UC patients, disease complications(OR = 3.39, 95%CI: 1.09-10.58) were associated with long-term full work *** The prevalence of work disability in IBD patients is higher than in the general Dutch population. Early assessment of risk factors for work disability is necessary, as work disability is substantial among IBD patients.

关键词： Inflammatory bowel disease Crohn’s disease Ulcerative colitis Work disability Health care costs

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遗传性神经痛性肌萎缩的组织学研究

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世界核心医学期刊文摘（神经病学分册） 2005年第7期1卷 31-32页

作者： Van Alfen N. Gabre■ls-festen A.A.W.M. Ter Laak H.J. 王晓琳 Neuromuscular Centre Nijmegen Institute of Neurology 314 Univ. Medical Centre Nijmegen POBox 910 1 6500 HB Nijmegen Netherlands Dr.

We report the findings in five muscle and three sural nerve biopsies,and in on e post mortem plexus specimen, from six patients with hereditary neuralgic amyot rophy (HNA). We found that the sensory nerves are definitely involved in HNA des pite the mainly motor symptoms, and that lesions in nerves and muscles are more wide spread throughout the peripheral nervous system than clinically presumed, b ut, simultaneously, very focally affect isolated fascicles within individual ner ves.

关键词：神经痛性肌萎缩腓肠神经活检肌肉活检组织学研究运动症状外周神经系统 nerves 肌肉损伤 plexus 神经束

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