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- Henstrom, M., et al.
(författare)
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Functional variants in the sucrase-isomaltase gene associate with increased risk of irritable bowel syndrome
- 2018
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Ingår i: Gut. - : BMJ. - 0017-5749 .- 1468-3288. ; 67:2, s. 263-270
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Tidskriftsartikel (refereegranskat)abstract
- Objective IBS is a common gut disorder of uncertain pathogenesis. Among other factors, genetics and certain foods are proposed to contribute. Congenital sucraseisomaltase deficiency (CSID) is a rare genetic form of disaccharide malabsorption characterised by diarrhoea, abdominal pain and bloating, which are features common to IBS. We tested sucrase-isomaltase (SI) gene variants for their potential relevance in IBS. Design We sequenced SI exons in seven familial cases, and screened four CSID mutations (p.Val557Gly, p. Gly1073Asp, p.Arg1124Ter and p.Phe1745Cys) and a common SI coding polymorphism (p.Val15Phe) in a multicentre cohort of 1887 cases and controls. We studied the effect of the 15Val to 15Phe substitution on SI function in vitro. We analysed p.Val15Phe genotype in relation to IBS status, stool frequency and faecal microbiota composition in 250 individuals from the general population. Results CSID mutations were more common in patients than asymptomatic controls (p=0.074; OR=1.84) and Exome Aggregation Consortium reference sequenced individuals (p=0.020; OR=1.57). 15Phe was detected in 6/7 sequenced familial cases, and increased IBS risk in case-control and population-based cohorts, with best evidence for diarrhoea phenotypes (combined p=0.00012; OR=1.36). In the population-based sample, 15Phe allele dosage correlated with stool frequency (p=0.026) and Parabacteroides faecal microbiota abundance (p=0.0024). The SI protein with 15Phe exhibited 35% reduced enzymatic activity in vitro compared with 15Val (p<0.05). Conclusions SI gene variants coding for disaccharidases with defective or reduced enzymatic activity predispose to IBS. This may help the identification of individuals at risk, and contribute to personalising treatment options in a subset of patients.
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| 2. |
- Bonfiglio, F., et al.
(författare)
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A GWAS meta-analysis from 5 population-based cohorts implicates ion channel genes in the pathogenesis of irritable bowel syndrome
- 2018
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Ingår i: Neurogastroenterology and Motility. - : WILEY. - 1350-1925 .- 1365-2982. ; 30:9
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Tidskriftsartikel (refereegranskat)abstract
- BackgroundIrritable bowel syndrome (IBS) shows genetic predisposition, however, large-scale, powered gene mapping studies are lacking. We sought to exploit existing genetic (genotype) and epidemiological (questionnaire) data from a series of population-based cohorts for IBS genome-wide association studies (GWAS) and their meta-analysis. MethodsBased on questionnaire data compatible with Rome III Criteria, we identified a total of 1335 IBS cases and 9768 asymptomatic individuals from 5 independent European genotyped cohorts. Individual GWAS were carried out with sex-adjusted logistic regression under an additive model, followed by meta-analysis using the inverse variance method. Functional annotation of significant results was obtained via a computational pipeline exploiting ontology and interaction networks, and tissue-specific and gene set enrichment analyses. Key ResultsSuggestive GWAS signals (P5.0x10(-6)) were detected for 7 genomic regions, harboring 64 gene candidates to affect IBS risk via functional or expression changes. Functional annotation of this gene set convincingly (best FDR-corrected P=3.1x10(-10)) highlighted regulation of ion channel activity as the most plausible pathway affecting IBS risk. Conclusion & InferencesOur results confirm the feasibility of population-based studies for gene-discovery efforts in IBS, identify risk genes and loci to be prioritized in independent follow-ups, and pinpoint ion channels as important players and potential therapeutic targets warranting further investigation.
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| 5. |
- Ersson, M., et al.
(författare)
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How to Support Child Healthcare Nurses in Sweden to Promote Healthy Lifestyle Behaviors from the Start of Life
- 2021
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Ingår i: Children. - : MDPI AG. - 2227-9067. ; 8:8
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Tidskriftsartikel (refereegranskat)abstract
- Child healthcare (CHC) nurses have a key role in promoting and supporting healthy lifestyle behaviors from a young age. Thus, this study aims to investigate the perspectives of CHC nurses regarding discussing food introduction, physical activity/active play, and screen time with parents; explore facilitators and barriers influencing the discussion of healthy lifestyle behaviors with parents; and explore the perspectives of CHC nurses regarding a complementary program to promote healthy lifestyle behaviors from the start of life. A total of fifteen nurses participated in semi-structured interviews, which were recorded, transcribed verbatim, and analyzed using thematic analysis. There were four themes that were generated: parental needs; facilitators and barriers; parental groups; and future working methods. This study found that CHC nurses have seen an increase in the need for support among today's parents. Time, the need to tailor information, and confidence to address sensitive topics were perceived as the largest barriers during daily work for the nurses. Furthermore, large variations in parental groups were found. Finally, the CHC nurses displayed a willingness and openness to change and develop current working methods using digital solutions. These solutions could possibly ease the workload and at the same time, support parents to create healthy lifestyle behaviors from the start of their child's life.
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| 8. |
- Ball, R, et al.
(författare)
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Engaging New Parents in the Development of a Peer Nutrition Education Model Using Participatory Action Research
- 2022
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Ingår i: International journal of environmental research and public health. - : MDPI AG. - 1660-4601. ; 19:1
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Tidskriftsartikel (refereegranskat)abstract
- This study investigated the implementation model and research methods of a peer education program for new parents focused on infant feeding and nutrition. Two hundred and sixty-nine parents with an infant aged birth to two years old were invited to become co-researchers in a Participatory Action Research (PAR) study over three years. Data included focus group and online participant meeting transcripts, social media data, correspondence between the implementation team and peer educators, and field notes. All data were consolidated regularly and discussed by project participants and the research team. After each PAR cycle, structured content analysis was conducted, informing the next iteration of the implementation model and research methods. Participating parents were highly engaged in child feeding peer-to-peer education, but felt more effective and comfortable being considered as a child-feeding information resource sharer or ‘champion’ rather than a formal peer educator. Similarly, quantitative data collection was only effective when it was integrated seamlessly into the implementation model. PAR methodology suited the diversity and dynamic real-life study setting, facilitating substantial improvements to the peer nutrition intervention model and data collection methods. Our study demonstrated that a genuine collaboration between health professionals and participants to implement research in practice can achieve both intervention outcomes and research aims.
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