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Pneumoconiosis in silica exposure

MDM2 · rs73329476

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 202 Han Chinese ancestry cases, 198 Han Chinese ancestry controls; replicated in 490 Han Chinese ancestry cases, 541 Han Chinese ancestry controls.

The effect Each copy of the T allele carried 2.17 times the odds of Pneumoconiosis in silica exposure (95% confidence interval 1.66 – 2.85); p = 2 × 10⁻⁸.

How common The T allele had a frequency of about 10% in the people studied.

Where it sits Chromosome 12, band 12q15 — between genes, 85 kb from TODL.

How common each version is

CT

Korean KRGDB

C 84.5% · T 15.5%

Korean Korea4K

C 84.8% · T 15.2%

Korean Korea1K

C 84.7% · T 15.3%

Japanese ToMMo

C 83.5% · T 16.5%

Vietnamese

C 93.5% · T 6.5%

World gnomAD

C 83.3% · T 16.7%

World 1000 Genomes

C 81.2% · T 18.8%

World TOPMed

C 83.3% · T 16.7%

By ancestry gnomAD

East Asian

C 86.6% · T 13.5%

European (non-Finnish)

C 83.8% · T 16.2%

African / African American

C 81.8% · T 18.2%

South Asian

C 71.4% · T 28.6%

Admixed American (Latino)

C 85.4% · T 14.6%

Middle Eastern

C 79.9% · T 20.1%

Finnish

C 89.0% · T 11.0%

Ashkenazi Jewish

C 77.2% · T 22.8%

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. The ancestry rows are gnomAD's own groups (via Ensembl), as the survey defines them, not races.

What each result means

C/C No copy of the version the research linked to Pneumoconiosis in silica exposure. This is the starting point the study compared everyone against.

C/T One copy of the version the research linked to Pneumoconiosis in silica exposure. That is a smaller link than two copies.

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

Source

A genome-wide association study identifies susceptibility loci of silica-related pneumoconiosis in Han Chinese

Chu M, Ji X, Chen W, Zhang R, Sun C, Wang T, Luo C, Gong J, Zhu M, Fan J, Hou Z, Dai J

and 6 more — show all

Jin G, Wu T, Chen F, Hu Z, Ni C, Shen H

Human molecular genetics · 2014 · PMID 24986923

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

Pneumoconiosis in silica exposure (rs73329476). MyGeneLog™. https://www.mygenelog.com/variants/rs73329476

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