Small pockets that form in the colon wall, common with age — a 2018 UK Biobank study of over 409,000 people found 39 new risk loci in total, 17 of them in this site's own catalogue, several pointing toward connective-tissue genes.
Diverticular disease begins with diverticula — small pockets that form where the colon's inner lining pushes through weak spots in its muscular wall. Most people with diverticula have no symptoms; "diverticular disease" specifically means the condition has become clinically significant, through diverticulitis (inflammation or infection of a pocket) or other symptoms.
This 2018 UK Biobank study compared 27,444 British-ancestry cases against 382,284 controls and found 39 new genome-wide significant loci in total, stated directly in its own title. Of those, 17 are represented in this site's catalogue and carried on this page, each independently genome-wide significant: among them rs7086249 (GPR158, p=5×10⁻¹⁶, the strongest), rs75434097 (COL6A1, p=5×10⁻¹¹) and rs3823878 (ELN, p=3×10⁻⁹) — the remaining 14 are each linked from this page too, with their own gene and p-value on their individual variant pages.
Separately from this GWAS, diverticular disease is estimated to be 40–53% heritable, and connective-tissue genes are among its strongest known candidates — a family this page's own genes fit directly: COL6A1 encodes a collagen subunit, and ELN encodes elastin, both structural proteins of the tissue the colon wall is made from. That heritability estimate and connective-tissue framing come from the broader research literature on the condition, not from this specific GWAS paper.
Positions joined since this page was written
What this is The text above discusses the variants this page was written around. Since then the catalogue has joined 15 more positions to it, by shared trait or shared paper. They are listed here by the paper each came from; the text does not describe them, and each variant page carries that study's own record.
Wu Y et al. 2023, Cell genomics rs11899380 (near EFEMP1), rs1427669 (TNS1), rs9514637 (NALF1), rs9983489 (near COL6A1), rs2276068 (ANO1), rs352143 (TWF2), rs10179961 (ARHGAP15), rs71350022 (ARHGAP15-AS1), rs16970678 (NALF1) — PMID:37492107
Verma A et al. 2024, Science (New York, N.Y.) rs8131409 (near COL6A1), rs12294208 (CALCB), rs2132469 (CALCB), rs7800548 (FBXL13), rs4372823 (ARHGAP15), rs7673527 (BMPR1B) — PMID:39024449
2026-01-27 · Genome-wide association and integrative analyses of relative handgrip strength identify polygenic determinants of gastrointestinal disorder susceptibility. BMC Gastroenterology. 2026. DOI:10.1186/s12876-026-04624-9
Hand grip strength (adjusted for BMI as relative hand grip strength, RHGS) is a marker of skeletal muscle quality, and this UK Biobank study of 405,394 Europeans set out to test whether it has a genuine causal relationship with digestive disorders, not just a correlation via general frailty. The GWAS itself found 1,111 independent SNPs across 226 loci and 407 genes; transcriptome-wide association prioritized L3MBTL3, CEP192 and NUCKS1, highly expressed in muscle cell types. The more clinically interesting results came from Mendelian randomization: genetically higher RHGS reduced the odds of diaphragmatic hernia (OR=0.45), diverticular intestine disease (OR=0.42), NAFLD (OR=0.49) and peptic ulcer (OR=0.54) -- a one-directional causal signal, not merely correlation. A polygenic risk score for RHGS replicated smaller but consistent protective associations with abdominal hernia, diaphragmatic hernia and diverticular disease. Notably, the protective effect was weakened by diabetes, high cholesterol and smoking, but strengthened by a cardioprotective diet and higher fiber intake -- muscle strength's protective effect on the gut is modifiable by lifestyle, not fixed. This site's hand grip strength page carries 59 variants; none of L3MBTL3, CEP192 or NUCKS1 are currently among them, and this is also a genuine new connection to the diverticular disease and peptic ulcer disease pages this site already has.
Diverticular disease is diagnosed by imaging (CT scan) or colonoscopy identifying the pockets and, when present, inflammation — not by genotype. None of the 17 variants on this page are used by any guideline to diagnose diverticular disease or decide treatment in an individual.
Most people with diverticula are managed with dietary fiber and monitoring; acute diverticulitis is treated with antibiotics when needed, and severe or recurrent complications may require surgery. Decisions follow clinical presentation and imaging findings, not genotype. The variants on this page describe population-level susceptibility found in a very large research study; they do not change how an individual case is managed.
What a 23andMe/AncestryDNA export or raw VCF can and can't tell you about Diverticular Disease comes down to these specific, well-studied positions — not a diagnosis. 32 positions are linked to this page; the ones this page's own text discusses are shown first.
near COL6A1 · rs8131409
See detailed info →The studies behind these variants recruited participants from different ancestries — a result found in one population doesn't always transfer to another. Based on 17 of 32 linked studies with a resolved discovery ancestry.
Databases, guidelines and references
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Diverticular Disease. MyGeneLog™. https://www.mygenelog.com/conditions/diverticular-disease
Diverticular disease begins with diverticula, small pockets that form where the colon's lining pushes through weak spots in its muscular wall. "Diverticular disease" means the condition has become clinically significant, most often through diverticulitis.
Comparing 27,444 cases against 382,284 controls, it found 39 new genome-wide significant loci in total, stated in the paper's own title. 17 of them are in this site's catalogue and carried on this page.
Partly — it is estimated to be 40–53% heritable, and connective-tissue genes (including two on this page, COL6A1 and ELN) are among the strongest known candidates, consistent with the colon wall's structural weakening as part of the mechanism.
No. Diagnosis is by imaging (CT scan) or colonoscopy, and treatment follows clinical presentation — fiber and monitoring for most cases, antibiotics for acute diverticulitis, surgery for severe or recurrent complications. None of it is decided by genotype.
Free to reuse. This page's text is original writing from freely-available research, licensed CC BY 4.0 — reuse it, including commercially, with attribution to MyGeneLog™. It's general research-derived information, not medical advice or a diagnosis — see Terms of Use.