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Myringotomy

TBX1 · rs1978060

Where this position leads

Condition: Tonsillectomy (Throat Infection Susceptibility)

What the study found

Who was studied 4,138 European ancestry cases, 85,089 European ancestry controls.

The effect Each copy of the G allele carried 1.17 times the odds of Myringotomy (95% confidence interval 1.14-1.2); p = 3 × 10⁻¹⁰.

How common The G allele had a frequency of about 60% in the people studied.

Where it sits Chromosome 22, band 22q11.21 — in an intron of TBX1.

What each result means

A/A Published research associates this genotype with typical/baseline likelihood of Myringotomy — no copies of the reported risk allele.

A/G Published research associates this genotype (one copy of the reported risk allele) with an intermediate association with Myringotomy.

G/G Published research associates this genotype (two copies of the reported risk allele) with a higher likelihood of Myringotomy compared to the general population.

Source

Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections

Tian C, Hromatka BS, Kiefer AK, Eriksson N, Noble SM, Tung JY, Hinds DA

Nature communications · 2017 · PMID 28928442 · open access

Questions about rs1978060

What is rs1978060?

rs1978060 is a single position in the genome, in or near the TBX1 gene. Published research associates it with myringotomy. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs1978060 linked to?

On MyGeneLog this position is linked to Tonsillectomy (Throat Infection Susceptibility). The research behind each link, and its sources, are set out on that condition page.

Does having rs1978060 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 rs1978060 come from?

GWAS Catalog, Nat Commun 2017, PMID:28928442. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

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