Swollen, inflamed veins in the lowest part of the rectum or anus, common enough that a 2021 study analyzed 944,133 people at once — finding a genome-wide significant, if individually small, risk variant near BMP8B.
Haemorrhoidal disease is swelling and inflammation of the veins in the lowest part of the rectum and anus. It is extremely common, and its causes are understood mainly as straining, prolonged sitting, pregnancy and age — this 2021 study is among the first to search systematically for a genetic contribution on top of those.
This study analyzed 944,133 people — 218,920 with haemorrhoidal disease and 725,213 without, all of European ancestry — the largest genome-wide association study of the condition to date. rs11585073, near BMP8B, reached genome-wide significance (p=4×10⁻³³): each copy of the risk allele (A) was associated with roughly 6% higher odds of haemorrhoidal disease (odds ratio 1.06, 95% CI 1.05–1.07).
That effect size is small — this is a common variant found through sheer sample size, not a large individual risk factor. BMP8B is involved in bone morphogenetic protein signaling, a pathway with roles in tissue development broadly; the study's title frames its contribution as insight into the condition's underlying biology (etiology) rather than a clinically actionable individual risk marker.
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 1 more position 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.
Zheng T et al. 2021, Gut rs722587 (GMDS) — PMID:33888516
Haemorrhoidal disease is diagnosed by physical examination, not by genotype. rs11585073 is not used by any guideline to diagnose the condition or decide treatment in an individual.
Treatment ranges from dietary fiber and topical measures for mild cases through procedural and surgical options for more severe or persistent disease — decided by clinical severity, not genotype. The variant on this page describes a very small population-level contribution found only because the study was unusually large; it does not change how an individual case is managed.
What a 23andMe/AncestryDNA export or raw VCF can and can't tell you about Haemorrhoidal Disease comes down to these specific, well-studied positions — not a diagnosis.
The studies behind these variants recruited participants from different ancestries — a result found in one population doesn't always transfer to another. Based on 3 of 3 linked studies with a resolved discovery ancestry.
Databases, guidelines and references
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Haemorrhoidal Disease. MyGeneLog™. https://www.mygenelog.com/conditions/hemorrhoidal-disease
Haemorrhoidal disease is swelling and inflammation of the veins in the lowest part of the rectum and anus. It is common and is mainly driven by straining, prolonged sitting, pregnancy and age.
Analyzing 944,133 people (218,920 cases, 725,213 controls), it found a genome-wide significant variant near BMP8B, with each risk allele copy linked to roughly 6% higher odds of the condition (odds ratio 1.06).
No — it is a common variant with a small individual effect, detectable only because the study analyzed nearly a million people. Non-genetic factors (straining, sitting, pregnancy, age) remain the main known drivers.
No. Diagnosis is by physical examination, and treatment is decided by clinical severity — not genotype.
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