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Pelvic organ prolapse

SBF2 · rs6484161

Stands on its own. Nothing else here links to this position yet — but the page above is the point: what the research found, what each genotype means, and where it came from, in language you can read. Links to conditions, drugs and the senses appear automatically if we write them.

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10⁻⁸, with 1 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 28,086 European ancestry cases, 546,291 European ancestry controls.

The effect Each copy of the T allele carried 1.06 times the odds of Pelvic organ prolapse (95% confidence interval 1.04-1.08); p = 6 × 10⁻⁹.

How common The T allele had a frequency of about 31% in the people studied.

Where it sits Chromosome 11, band 11p15.4 — in an intron of SBF2.

How common each version is

GT

Korean KRGDB

G 70.8% · T 29.2%

Korean Korea4K

G 71.6% · T 28.4%

Korean Korea1K

G 70.3% · T 29.7%

Japanese ToMMo

G 70.7% · T 29.3%

World gnomAD

G 72.6% · T 27.4%

World 1000 Genomes

G 76.6% · T 23.4%

World TOPMed

G 73.1% · T 26.9%

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

G/G No copy of the version the research linked to Pelvic organ prolapse. This is the starting point the study compared everyone against.

G/T One copy of the version the research linked to Pelvic organ prolapse. That is a smaller link than two copies.

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

Source

Advancing our understanding of genetic risk factors and potential personalized strategies for pelvic organ prolapse

Pujol-Gualdo N, Läll K, Lepamets M, Rossi HR, Arffman RK, Piltonen TT, Mägi R, Laisk T

Estonian Biobank Research Team

Nature communications · 2022 · PMID 35739095 · open access

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

Pelvic organ prolapse (rs6484161). MyGeneLog™. https://www.mygenelog.com/variants/rs6484161

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