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Inguinal hernia

near PNPT1 · rs10167227

Where this position leads

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10⁻¹⁶, with 2 associations in the GWAS Catalog.

How this is scored

4: ClinVar disease-causing, reviewed by an expert panel or a guideline (3–4 stars). 3: ClinVar, several labs agreeing (2 stars), or a genetic study at p ≤ 10⁻⁵⁰. 2: ClinVar from one lab (1 star), or p ≤ 10⁻²⁰. 1: ClinVar submitted without criteria (0 stars), or genome-wide significance (p ≤ 5×10⁻⁸). The higher of the two counts. It says how solid the evidence is, not whether it matters for a particular person.

What the study found

Who was studied 13,047 European ancestry cases, 262,499 European ancestry controls; replicated in 4,450 European ancestry cases, 87,398 European ancestry controls.

The effect The reported allele is T; the catalogue records no effect size ; p = 2 × 10⁻¹⁶.

How common The T allele had a frequency of about 12% in the people studied.

Where it sits Chromosome 2, band 2p16.1 — between genes, 83.8 kb from PNPT1.

How common each version is

CT

Korean KRGDB

C 97.3% · T 2.7%

Korean Korea4K

C 97.8% · T 2.2%

Korean Korea1K

C 96.9% · T 3.1%

Japanese ToMMo

C 96.9% · T 3.1%

World gnomAD

C 89.1% · T 10.9%

World 1000 Genomes

C 91.2% · T 8.8%

World TOPMed

C 88.9% · T 11.1%

The share of all copies of this position that are each version. Source: the population studies published in dbSNP (US NCBI); each row names its study.

What each result means

C/C No copy of the version the research linked to Inguinal hernia. This is the starting point the study compared everyone against.

C/T One copy of the version the research linked to Inguinal hernia. That is a smaller link than two copies.

T/T Two copies of the version the research linked to Inguinal hernia. That is the strongest link of the three results. A link in a study is not a diagnosis.

Source

Identification of fifty-seven novel loci for abdominal wall hernia development and their biological and clinical implications: results from the UK Biobank

Wei J, Attaar M, Shi Z, Na R, Resurreccion WK, Haggerty SP, Zheng SL, Helfand BT, Ujiki MB, Xu J

Hernia : the journal of hernias and abdominal wall surgery · 2022 · PMID 34382107

Questions about rs10167227

What is rs10167227?

rs10167227 is a single position in the genome, in or near the near PNPT1 gene. Published research associates it with inguinal hernia. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs10167227 linked to?

On MyGeneLog this position is linked to Inguinal Hernia. The research behind each link, and its sources, are set out on that condition page.

Does having rs10167227 mean I will get this?

No. Common variants like this one move a probability slightly and, on their own, rarely decide anything about one person. Nothing on this page is a diagnosis, and health decisions should be made with a clinician who can see your whole picture.

Where does the information about rs10167227 come from?

GWAS Catalog, Hernia : the journal of hernias and abdominal wall surgery 2022, PMID:34382107. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

Licensed CC BY-NC 4.0: free to read, share and adapt for non-commercial use, naming MyGeneLog™ and linking the exact page. Commercial use, including training or serving a commercial AI system, needs a licence — https://www.mygenelog.com/license

Inguinal hernia (rs10167227). MyGeneLog™. https://www.mygenelog.com/variants/rs10167227

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