Sensitive

Esophageal squamous cell carcinoma

PLCE1 · rs7099485

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 1,686 Sub-Saharan African ancestry cases, 3,217 Sub-Saharan African ancestry controls, 2,013 East Asian ancestry cases, 2,701 East Asian ancestry controls.

The effect Each copy of the C allele carried 1.94 times the odds of Esophageal squamous cell carcinoma (95% confidence interval 1.86-2.03); p = 1 × 10⁻⁸.

Where it sits Chromosome 10, band 10q23.33 — in an intron of PLCE1.

How common each version is

CT

Korean KRGDB

C 25.0% · T 75.0%

Korean Korea4K

C 26.1% · T 73.9%

Korean Korea1K

C 26.2% · T 73.9%

Japanese ToMMo

C 24.7% · T 75.3%

World gnomAD

C 33.5% · T 66.5%

World 1000 Genomes

C 32.2% · T 67.8%

World TOPMed

C 34.1% · T 65.9%

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

C/C Two copies of the version the research linked to Esophageal squamous cell carcinoma. That is the strongest link of the three results. A link in a study is not a diagnosis.

C/T One copy of the version the research linked to Esophageal squamous cell carcinoma. That is a smaller link than two copies.

T/T No copy of the version the research linked to Esophageal squamous cell carcinoma. This is the starting point the study compared everyone against.

Source

Genome-wide association study of esophageal squamous cell cancer identifies shared and distinct risk variants in African and Chinese populations

Chen WC, Brandenburg JT, Choudhury A, Hayat M, Sengupta D, Swiel Y, Babb de Villiers C, Ferndale L, Aldous C, Soo CC, Lee S, Curtis C

and 10 more — show all

Newton R, Waterboer T, Sitas F, Bradshaw D, Abnet CC, Ramsay M, Parker MI, Singh E, Lewis CM, Mathew CG

American journal of human genetics · 2023 · PMID 37673066

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

Esophageal squamous cell carcinoma (rs7099485). MyGeneLog™. https://www.mygenelog.com/variants/rs7099485

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