The TNFSF15 Gene Single Nucleotide Polymorphism rs7848647 Is Associated With Surgical Diverticulitis

Connelly, Tara M.; Berg, Arthur; Hegarty, John P.; Deiling, Sue; Brinton, David; Poritz, Lisa S.; Koltun, Walter A.

doi:10.1097/sla.0000000000000232

Cited by 69 publications

(40 citation statements)

References 45 publications

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“…Few sequence variants have previously been reported to associate with diverticular disease, diverticulitis or diverticular disease -related diseases in small candidate gene studies30313233. We show no evidence for association of these variants with the disease in the Icelandic data (Supplementary Table 7).…”

Section: Resultscontrasting

confidence: 53%

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

et al. 2017

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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.

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Section: Resultscontrasting

confidence: 53%

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

et al. 2017

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“…In the test group, the homozygous GG genotype was found in 56% of SD patients compared with 17% of healthy controls (p = 0.006). Risk of diverticulitis seemed to increase with number of the G alleles, with 8% of diverticulitis patients having AA homozygosity, 35% of diverticulitis patients having AG heterozygosity, and 56% of diverticulitis patients having GG homozygosity [26].…”

Section: Genetic Factorsmentioning

confidence: 98%

New medical strategies for the management of acute diverticulitis

Tursi

2015

Expert Review of Gastroenterology & Hepatology

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Acute diverticulitis, defined as acute inflammation of a colonic diverticulum, is a common emergency presentation managed by both surgeons and physicians. There have been advances in the medical treatments offered to patients in recent years. Factors predisposing individuals to the development of acute diverticulitis include obesity, smoking, lack of physical activity and medication use, such as NSAIDs. Although widely used, there is limited evidence on the efficacy of individual antibiotic regimens and antibiotic treatment may not be required in all patients. Mesalazine seems to be the only effective treatment for the primary prevention of acute diverticulitis. Finally, evidence of effective measures for the prevention of recurrence is lacking. Furthermore, high-quality randomized controlled trials are required for medical treatments in patients with acute diverticulitis, if management is to be evidence based.

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“…Gemelos homocigotos presentarían un riesgo de 14,5 comparado con 5 en dicigotos 17 . Otros han señalado el rol del gen TNFSF15 en el riesgo de cirugía en pacientes con DA 18 . Enfermedades genéticas relacionadas con alteraciones del tejido conectivo, como el síndro-me de Williams Beuren y Ehlers Danlos, estarían asociadas a diverticulosis, dado cambios a nivel de la elastina 19 y disminución de la expresión de colágeno-3 20 , respectivamente.…”

Section: Genéticaunclassified