Inguinal Hernia
Repairing a groin hernia is one of the most common operations in the world, and men are far more likely to need it than women. Three studies have mapped the inherited part, the largest finding 63 loci — some of them specific to one sex. 14 positions are on this page.
What this condition connects to
An inguinal hernia is a bulge of tissue, usually part of the bowel or the fat around it, through a weak place in the wall of the lower abdomen, at the groin. Repairing one is among the most commonly performed operations in the world. Hernias run in families, and the lifetime chance of having one is nine times greater in men than in women.
Four regions, found in 2015
Jorgenson et al. 2015, in Nature Communications, studied hernias confirmed at surgery in 72,805 people — 5,295 with a hernia and 67,510 without — and checked the results in 92,444 more. It found four regions, at the genes EFEMP1, WT1, EBF2 and ADAMTS6. All four genes are active in connective tissue in the mouse, and two of them, EFEMP1 and WT1, have a part in maintaining it. That fits what a hernia is: a failure of the tissue that holds the abdominal wall together.
Two larger studies in 2022
A study of 367,394 people in the UK Biobank confirmed the four regions and added 57, 55 of them for inguinal hernia, and put the heritability of inguinal hernia at 0.12. A second, Choquet et al. 2022, brought together 513,120 people of Hispanic/Latino, African, Asian and European descent, 35,774 of them with a hernia, and replicated its findings in 728,418 more. It found 63 loci, 41 of them new.
Because it analysed groups separately, that study could see what a pooled analysis hides. Two loci appeared only in people of African ancestry. Two were specific to women — MYO1D and ZBTB7C — and four to men, among them EBF2. And in laboratory experiments the EFEMP1 region acted as an enhancer, a stretch of DNA that turns a gene up, with different activity depending on which version a person carries.
14 positions on this page
Eight are filed on this site under inguinal hernia: rs6991952 in EBF2; rs370763, reported at ADAMTS6; rs1874014 in CRISPLD2; rs3118363 in TRIM27; rs35318931, a protein-altering variant in SRPX; rs573666 near DLEU1; rs10199082 near EFEMP1; and rs12453693 near MAP2K4.
The other six lie inside two of the genes the 2015 study named, and were already here under other traits: five in EFEMP1 — rs1346786 and rs11899888, filed under height, rs1430193, filed under lung function, rs1802575 and rs7596872 — and rs7110547 in WT1. The UK Biobank study reports all six for inguinal hernia. This page joins positions inside the named genes only; the many neighbouring positions in the same regions are left where they are filed.
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 10 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.
Choquet H et al. 2022, Human molecular genetics rs80172616 (near MIR217HG), rs12810758 (HMGA2), rs4410916 (EBF2), rs7924571 (near WT1), rs56976399 (MIR222HG) — PMID:35022708
Wei J et al. 2022, Hernia : the journal of hernias and abdominal wall surgery rs13431149 (MIR217HG), rs2301250 (WT1-AS), rs12040264 (near LYPLAL1-AS1), rs2820449 (LYPLAL1-AS1) — PMID:34382107
Ahmed WU et al. 2022, PloS one rs6983815 (EBF2) — PMID:36584111
From our blog
Clinical detail
What is actually diagnosed and treated here
An inguinal hernia is diagnosed by examination, sometimes with ultrasound — not from a genotype. None of the 14 variants on this page is used by any guideline to predict, screen for or diagnose a hernia.
Each variant here shifts the odds by a small amount. Surgical repair is the treatment, and whether and when to operate depends on symptoms. A hernia that becomes painful, hard or cannot be pushed back needs urgent attention, and no genotype is relevant to that. The UK Biobank study found that a score built from many variants went with both developing a hernia and needing a repeat repair; that is a research finding, not a test in use.
Related variants MyGeneLog™ checks for
What a 23andMe/AncestryDNA export or raw VCF can and can't tell you about Inguinal Hernia comes down to these specific, well-studied positions — not a diagnosis.
Which ancestries this evidence comes from
The studies behind these variants recruited participants from different ancestries — a result found in one population doesn't always transfer to another. Based on 6 of 24 linked studies with a resolved discovery ancestry.
Sources
Databases, guidelines and references
Quoting this page
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Inguinal Hernia. MyGeneLog™. https://www.mygenelog.com/conditions/inguinal-hernia
Questions about Inguinal Hernia
What is an inguinal hernia?
A bulge of tissue, usually part of the bowel or the fat around it, through a weak place in the wall of the lower abdomen at the groin. Repairing one is among the most common operations in the world.
Is inguinal hernia genetic?
Partly. Hernias run in families, and the largest study, in 513,120 people, found 63 associated loci. A UK Biobank study estimated the heritability at 0.12.
Why are hernias more common in men?
The lifetime chance is nine times greater in men. The largest genetic study found four loci specific to men and two specific to women, which shows the inherited part differs by sex; it does not fully explain the gap.
Can these variants predict whether I will get a hernia?
No. They are population-level findings of small effect. A hernia is diagnosed by examination, and no guideline uses a genotype to predict one.
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.