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- Gehlen, J., et al.
(author)
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First genome-wide association study of esophageal atresia identifies three genetic risk loci at CTNNA3, FOXF1/FOXC2/FOXL1, and HNF1B
- 2022
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In: Human Genetics and Genomics Advances. - : Elsevier BV. - 2666-2477. ; 3:2
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Journal article (peer-reviewed)abstract
- Esophageal atresia with or without tracheoesophageal fistula (EA/TEF) is the most common congenital malformation of the upper digestive tract. This study represents the first genome-wide association study (GWAS) to identify risk loci for EA/TEF. We used a European case-control sample comprising 764 EA/TEF patients and 5,778 controls and observed genome-wide significant associations at three loci. On chromosome 10q21 within the gene CTNNA3 (p = 2.11 × 10−8; odds ratio [OR] = 3.94; 95% confidence interval [CI], 3.10–5.00), on chromosome 16q24 next to the FOX gene cluster (p = 2.25 × 10−10; OR = 1.47; 95% CI, 1.38–1.55) and on chromosome 17q12 next to the gene HNF1B (p = 3.35 × 10−16; OR = 1.75; 95% CI, 1.64–1.87). We next carried out an esophageal/tracheal transcriptome profiling in rat embryos at four selected embryonic time points. Based on these data and on already published data, the implicated genes at all three GWAS loci are promising candidates for EA/TEF development. We also analyzed the genetic EA/TEF architecture beyond the single marker level, which revealed an estimated single-nucleotide polymorphism (SNP)-based heritability of around 37% ± 14% standard deviation. In addition, we examined the polygenicity of EA/TEF and found that EA/TEF is less polygenic than other complex genetic diseases. In conclusion, the results of our study contribute to a better understanding on the underlying genetic architecture of ET/TEF with the identification of three risk loci and candidate genes. © 2022 The Authors
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- Ferreira, N., et al.
(author)
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The impact of the coronavirus (COVID-19) pandemic on individuals with gastrointestinal disorders: A protocol of an international collaborative study
- 2021
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In: Journal of Psychosomatic Research. - : Elsevier BV. - 0022-3999 .- 1879-1360. ; 148
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Journal article (peer-reviewed)abstract
- Objective: The COVID-19 pandemic has had a significant impact on mental health across the globe. People living with a chronic gastrointestinal (GI) disorder might be particularly at risk of mental health complications given higher rates of comorbid anxiety and depression compared to the healthy population. As GI disorders affect up to 40% of the population worldwide, this international collaborative study seeks to evaluate the extent of the impact of the COVID-19 pandemic on GI symptoms specifically and more generally on the well-being of those living with chronic GI conditions. Methods: A longitudinal survey with three time points (baseline, 6-month, and 12-month) will be conducted online. Adult participants with GI disorders from multiple countries will be recruited via patient associations, social media advertising, utilizing snowball sampling. Participants will be invited to complete a battery of questionnaires including demographic and health parameters, and measures of gastrointestinal symptoms, fear of COVID-19, perceived impact of COVID-19, illness perceptions, coping, depression, anxiety, stress, catastroph-izing, and quality of life, using validated measures where available. Statistical analyses will include univariate descriptive models, multivariate models utilizing regression, mediation, and moderation, and latent growth models. Conclusions: This project may present novel information to the field of psychogastroenterology and may provide crucial information regarding the areas of impact for individuals with GI disorders during and following the pandemic. Further, this information can guide healthcare providers and patient associations on how to target support related to the pandemic mental health sequelae for these patients.
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- Mikocka-Walus, Antonina, et al.
(author)
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Exploring the Relationship Between Self-Isolation and Distress Among People with Gastrointestinal Disorders During the COVID-19 Pandemic
- 2022
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In: Journal of clinical psychology in medical settings. - : Springer. - 1068-9583 .- 1573-3572. ; 29:3, s. 654-665
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Journal article (peer-reviewed)abstract
- This study aimed to explore the association between perceived isolation and symptoms of distress in people with GI disorders at the time of the pandemic; and to examine factors which moderate this relationship. This online cross-sectional survey was advertised in May-September 2020 via patient organisations and associated social media. Overall, 831 people (82% female, mean age 49 years) from 27 countries participated. A significant relationship between social isolation and psychological distress was noted (r = .525, p < .001). GI symptoms moderated the association between isolation and distress (B = .047, t = 2.47, p = .015). Interventions targeting these factors may help to reduce distress in people with GI disorders at the time of major stressors such as the COVID-19 pandemic.
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- Hayes, Bree, et al.
(author)
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Extending the Common Sense Model to Explore the Impact of the Fear of COVID-19 on Quality of Life in an International Inflammatory Bowel Disease Cohort
- 2022
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In: Journal of clinical psychology in medical settings. - : Springer. - 1068-9583 .- 1573-3572. ; 29:3, s. 678-688
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Journal article (peer-reviewed)abstract
- The aim of this cross-sectional study was to use an extended common sense model (CSM) to evaluate the impact of fear of COVID-19 on quality of life (QoL) in an international inflammatory bowel disease cohort. An online study involving 319 adults (75% female, mean (SD) 14.06 (15.57) years of symptoms) completed the Gastrointestinal Symptom Rating Scale, Brief Illness Perceptions Questionnaire, Fear of Contracting COVID-19 Scale, Brief-COPE, Depression, Anxiety and Stress Scale, and the EUROHIS-QOL. The extended CSM had an excellent fit (chi(2) (9) = 17.06, p = .05, chi(2)/N = 1.90, RMSEA = 0.05, SRMR = 0.04, CFI = .99, TLI = .97, GFI = 0.99), indicating the influence of gastrointestinal symptoms on QoL was mediated by illness perceptions, fear of COVID-19, adaptive and maladaptive coping, and psychological distress. Interventions targeting the fear of COVID-19 in the context of an individual's perceptions will likely enhance QoL during the pandemic.
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| 7. |
- Lo, B., et al.
(author)
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Fear of COVID-19 Among Patients with Inflammatory Bowel Disease as Compared to Patients with Other Gastrointestinal Conditions
- 2022
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In: Turkish Journal of Gastroenterology. - : AVES Publishing Co.. - 1300-4948 .- 2148-5607. ; 33:8, s. 664-672
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Journal article (peer-reviewed)abstract
- Background: Although several studies have reported the impact of fears relating to coronavirus-19 on several chronic illnesses, there are few studies focused on gastrointestinal conditions. Therefore, the aim of this study was to compare the fear of coronavirus-19 in patients with inflammatory bowel disease to other gastrointestinal conditions and how the fear of COVID-19 manifests across different demographical backgrounds among inflammatory bowel disease respondents. Methods: Participants with gastrointestinal conditions (age >= 18) were recruited from 27 countries. Demographic, clinical, and psychosocial information was collected. An adapted scale for inflammatory bowel disease patients measuring the fear of coronavirus-19 and gastrointestinal-specific fear of coronavirus-19 was used. Results: In 831 participants (312 inflammatory bowel disease), only significant increases in gastrointestinal-fear of coronavirus-19 were found in between inflammatory bowel disease and other gastrointestinal conditions (mean [standard deviation]: 13.5 [5.5] vs 10.9 [5.0], P <.01). Among inflammatory bowel disease respondents, persons on sick leave had significantly more fear of coronavirus-19 than those employed (median [IQR], 31.0 [28.5-39.5] vs 26.0 [20.0-33.0], P =.035) and significantly more gastrointestinal-fear of coronavirus-19 compared to the employed (18.0 [14.5-22.0] vs 13.0 [9.0-17.0], P =.033) or respondents outside of the labor market (12.0 [7.0-16.0], P =.022). Persons living in a rural setting had significantly more fear of coronavirus-19 compared to persons living in regional setting (29.5 [22.0-37.8] vs 25.0 [20.0-31.3], P =.007) and gastrointestinal-fear of coronavirus-19 (15.0 [11.0-19.8] vs 12.0 [9.0-16.0], P =.02). Conclusion: Respondents with inflammatory bowel disease are more afraid of coronavirus-19 regarding their disease; especially, persons on sick leave or persons living in a rural setting. This should be taken into consideration to personalize the support that health care providers can offer in mitigating fear related to coronavirus-19.
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| 8. |
- Hess, Timo, et al.
(author)
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Dissecting the genetic heterogeneity of gastric cancer
- 2023
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In: EBioMedicine. - : Elsevier. - 2352-3964. ; 92
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Journal article (peer-reviewed)abstract
- Background: Gastric cancer (GC) is clinically heterogenous according to location (cardia/non-cardia) and histopathology (diffuse/intestinal). We aimed to characterize the genetic risk architecture of GC according to its subtypes. Another aim was to examine whether cardia GC and oesophageal adenocarcinoma (OAC) and its precursor lesion Barrett's oesophagus (BO), which are all located at the gastro-oesophageal junction (GOJ), share polygenic risk architecture.Methods: We did a meta-analysis of ten European genome-wide association studies (GWAS) of GC and its subtypes. All patients had a histopathologically confirmed diagnosis of gastric adenocarcinoma. For the identification of risk genes among GWAS loci we did a transcriptome-wide association study (TWAS) and expression quantitative trait locus (eQTL) study from gastric corpus and antrum mucosa. To test whether cardia GC and OAC/BO share genetic aetiology we also used a European GWAS sample with OAC/BO.Findings: Our GWAS consisting of 5816 patients and 10,999 controls highlights the genetic heterogeneity of GC according to its subtypes. We newly identified two and replicated five GC risk loci, all of them with subtype-specific association. The gastric transcriptome data consisting of 361 corpus and 342 antrum mucosa samples revealed that an upregulated expression of MUC1, ANKRD50, PTGER4, and PSCA are plausible GC-pathomechanisms at four GWAS loci. At another risk locus, we found that the blood-group 0 exerts protective effects for non-cardia and diffuse GC, while blood-group A increases risk for both GC subtypes. Furthermore, our GWAS on cardia GC and OAC/BO (10,279 patients, 16,527 controls) showed that both cancer entities share genetic aetiology at the polygenic level and identified two new risk loci on the single-marker level.Interpretation: Our findings show that the pathophysiology of GC is genetically heterogenous according to location and histopathology. Moreover, our findings point to common molecular mechanisms underlying cardia GC and OAC/BO.
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- Knowles, Simon R., et al.
(author)
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Exploring the Impact of Covid-19-Related Perceptions on Psychological Distress and Quality of Life in an International Gastrointestinal Cohort Over Time Guided by the Common Sense Model
- 2023
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In: Journal of clinical psychology in medical settings. - : Springer. - 1068-9583 .- 1573-3572. ; 30:4, s. 804-820
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Journal article (peer-reviewed)abstract
- The aim of this longitudinal study was to examine changes in COVID-19 and illness-related perceptions, gastrointestinal symptoms, coping, catastrophising, psychological distress, and QoL during the COVID-19 pandemic. A total of 831 adults with a gastrointestinal condition completed an online questionnaire at baseline (May-October 2020). Of those, 270 (32.5%) participants (85.2% female, mean age = 47.3 years) provided follow-up data (March-May 2021). Repeated-measures multiple analysis of variance and a cross-lagged panel model were used to test the study hypotheses. Gastrointestinal symptoms and COVID-19 perceptions at follow-up were strongly predicted by their baseline values, while illness perceptions were predicted by baseline gastrointestinal symptoms. Cross-lagged relationships indicated a reciprocal relationship between gastrointestinal symptoms and psychological distress. Moreover, gastrointestinal symptoms had substantial predictive utility, strongly predicting future gastrointestinal symptoms, and to a lesser extent, more negative illness perceptions, greater psychological distress, and greater use of adaptive coping strategies across time.
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