Dataset Information

Sequence variants in ARHGAP15, COLQ and FAM155A associate with diverticular disease and diverticulitis.

ABSTRACT: Diverticular disease is characterized by pouches (that is, diverticulae) due to weakness in the bowel wall, which can become infected and inflamed causing diverticulitis, with potentially severe complications. Here, we test 32.4 million sequence variants identified through whole-genome sequencing (WGS) of 15,220 Icelanders for association with diverticular disease (5,426 cases) and its more severe form diverticulitis (2,764 cases). Subsequently, 16 sequence variants are followed up in a diverticular disease sample from Denmark (5,970 cases, 3,020 controls). In the combined Icelandic and Danish data sets we observe significant association of intronic variants in ARHGAP15 (Rho GTPase-activating protein 15; rs4662344-T: P=1.9 × 10-18, odds ratio (OR)=1.23) and COLQ (collagen-like tail subunit of asymmetric acetylcholinesterase; rs7609897-T: P=1.5 × 10-10, OR=0.87) with diverticular disease and in FAM155A (family with sequence similarity 155A; rs67153654-A: P=3.0 × 10-11, OR=0.82) with diverticulitis. These are the first loci shown to associate with diverticular disease in a genome-wide study.

SUBMITTER: Sigurdsson S

PROVIDER: S-EPMC5467205 | biostudies-literature | 2017 Jun

REPOSITORIES: biostudies-literature

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Sequence variants in ARHGAP15, COLQ and FAM155A associate with diverticular disease and diverticulitis.

Sigurdsson Snaevar S Alexandersson Kristjan F KF Sulem Patrick P Feenstra Bjarke B Gudmundsdottir Steinunn S Halldorsson Gisli H GH Olafsson Sigurgeir S Sigurdsson Asgeir A Rafnar Thorunn T Thorgeirsson Thorgeir T Sørensen Erik E Nordholm-Carstensen Andreas A Burcharth Jakob J Andersen Jens J Jørgensen Henrik Stig HS Possfelt-Møller Emma E Ullum Henrik H Thorleifsson Gudmar G Masson Gisli G Thorsteinsdottir Unnur U Melbye Mads M Gudbjartsson Daniel F DF Stefansson Tryggvi T Jonsdottir Ingileif I Stefansson Kari K

Nature communications 20170606

Diverticular disease is characterized by pouches (that is, diverticulae) due to weakness in the bowel wall, which can become infected and inflamed causing diverticulitis, with potentially severe complications. Here, we test 32.4 million sequence variants identified through whole-genome sequencing (WGS) of 15,220 Icelanders for association with diverticular disease (5,426 cases) and its more severe form diverticulitis (2,764 cases). Subsequently, 16 sequence variants are followed up in a divertic ...[more]

PMID: 28585551

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Project description:Background and Objectives: The role of physical activity (PA) in elderly patients admitted to surgical units for mild acute diverticulitis in the development of disability has not been clarified so far. Our aim is to demonstrate the relationship between physical activity and better post-discharge outcomes on disability in elderly population affected by diverticular disease. Materials and Methods: We retrospectively reviewed data of 56 patients (32 Males-24 females) collected from October 2018 and March 2020 at Cardarelli Hospital in Campobasso. We included patients older than 65 yrs admitted for acute bleeding and acute diverticulitis stage ≤II, characterized by a good independence status, without cognitive impairment and low risk of immobilization, as evaluated by activity of daily living (ADL) and the instrumental activity of daily living (IADL) and Exton-Smith Scale. "Physical Activity Scale for the Elderly" (PASE) Score evaluated PA prior to admission and at first check up visit. Results: 30.4% of patients presented a good PA, 46.4% showed moderate PA and 23.2% a low PA score. A progressive reduction in ADL and IADL score was associated with lower physical activity (p value = 0.0038 and 0.0017). We consider cognitive performance reduction with a cut off of loss of more than 5 points in Short Port of ADL and IADL and a loss of more than 15 points on Exton-Smith Scale, (p-value 0.017 and 0.010). In the logistic regression analysis, which evaluated the independent role of PASE in disability development, statistical significance was not reached, showing an Odds Ratio of 0.51 95% CI 0.25-1.03 p value 0.062. Discussion: Reduced physical activity in everyday life in elderly is associated with increased post-hospitalization disability regarding independence, cognitive performance and immobilization. Conclusions: Poor physical performance diagnosis may allow to perform a standardized multidimensional protocol to improve PA to reduce disability incidence.

Dataset Information

Sequence variants in ARHGAP15, COLQ and FAM155A associate with diverticular disease and diverticulitis.

Publications

Sequence variants in ARHGAP15, COLQ and FAM155A associate with diverticular disease and diverticulitis.

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