rs10928187 - ARHGAP15
Magnitude 2.8 · 1 study on file
Reported associations
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Multi-ancestry genome- and phenome-wide association studies of diverticular disease in electronic health records with natural language processing enriched phenotyping algorithm - Unknown journal (n.d.) · Unknown authors · PubMed 37196047
ABSTRACT: Objective Diverticular disease (DD) is one of the most prevalent conditions encountered by gastroenterologists, affecting ~50% of Americans before the age of 60. Our aim was to identify genetic risk variants and clinical phenotypes associated with DD, leveraging multiple electronic health record (EHR) data sources of 91,166 multi-ancestry participants with a Natural Language Processing (NLP) technique. Materials and methods We developed a NLP-enriched phenotyping algorithm that incorporated colonoscopy or abdominal imaging reports to identify patients with diverticulosis and diverticulitis from multicenter EHRs. We performed genome-wide association studies (GWAS) of DD in European, African and multi-ancestry participants, followed by phenome-wide association studies (PheWAS) of t
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Lifestyle context
Concrete actions anchored to the cited research. We do not prescribe, we describe.
Discuss with your doctor
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Diverticulitis genetic risk and prevention strategies Moderate
ARHGAP15 regulates antimicrobial Rac protein signaling in leukocytes, affecting colonic inflammatory response
Screening
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Diverticulitis screening and symptom awareness Moderate
Genetic variant increases diverticulitis risk 1.42-fold through impaired intestinal antimicrobial defense
Discuss screening approach with physician; seek immediate care for abdominal pain, fever, or bowel changes