rs10081191 - PTPRN2: noise-induced hearing loss link
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Key takeaways
- rs10081191 is linked to noise-induced hearing loss
- the variant raises PTPRN2 expression in brain tissue
- evidence comes from a replicated Chinese GWAS
Key takeaways
- rs10081191 is linked to noise-induced hearing loss
- the variant raises PTPRN2 expression in brain tissue
- evidence comes from a replicated Chinese GWAS
What the research says A Chinese genome-wide association study found rs10081191 in the intron of PTPRN2 is significantly associated with noise-induced hearing loss [PMID 33242228]. Expression quantitative trait loci analyses show that this variant increases expression of PTPRN2 and WDR60 in brain tissue GTEx Portal.
Reported associations
- Noise-induced hearing loss: the variant is significantly associated with NIHL, p=2.1e-6, based on 711 participants [PMID 33242228].
Evidence quality The GWAS was performed in 711 Chinese males with and without noise exposure, followed by a replication study of 53 cases and 360 controls [PMID 33242228]. The variant shows a significant association (p=2.1×10-6) and the findings were replicated in an independent sample.
Tissue-specific expression effects
- PTPRN2: increased expression in brain (BA9, amygdala, cortex), whole blood, aorta, thyroid, esophagus mucosa GTEx Portal.
No lifestyle considerations on file for this variant.
Lifestyle context
Concrete actions anchored to the cited research. We do not prescribe, we describe.
Discuss with your doctor
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Occupational noise exposure and career planning consultation Moderate
Homozygous risk genotype substantially increases NIHL susceptibility; may warrant occupational and recreational counseling
Lifestyle
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Hearing protection in occupational and recreational noise Moderate
rs10081191 A allele increases NIHL susceptibility through reduced PTPRN2 expression in auditory brain regions
Wear rated hearing protection in environments >85 dB; use in occupational and recreational loud activities
Screening
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Baseline and periodic audiometric assessment Moderate
Increased NIHL genetic susceptibility enables early hearing loss detection and preventive intervention
Establish baseline hearing assessment by age 20-25; repeat annually if occupationally exposed to noise >85 dB
Frequently asked questions
Is rs10081191 related to hearing loss?
Yes it is linked to noise-induced hearing loss based on the study.
Does this variant affect brain gene expression?
The GTEx data show increased PTPRN2 expression in several brain regions.
Why isn't this a common variant?
It is a rare index SNP identified in a Chinese population; not a typical common disease allele.