RGD Reference Report - Association of the 4 g/5 g polymorphism of plasminogen activator inhibitor-1 gene with sudden sensorineural hearing loss. A case control study. - Rat Genome Database

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Association of the 4 g/5 g polymorphism of plasminogen activator inhibitor-1 gene with sudden sensorineural hearing loss. A case control study.

Authors: Cho, SH  Chen, H  Kim, IS  Yokose, C  Kang, J  Cho, D  Cai, C  Palma, S  Busi, M  Martini, A  Yoo, TJ 
Citation: Cho SH, etal., BMC Ear Nose Throat Disord. 2012 Jun 6;12:5. doi: 10.1186/1472-6815-12-5.
RGD ID: 8547731
Pubmed: PMID:22672326   (View Abstract at PubMed)
PMCID: PMC3431267   (View Article at PubMed Central)
DOI: DOI:10.1186/1472-6815-12-5   (Journal Full-text)

BACKGROUND: The 5 G/5 G genotype of PAI-1 polymorphism is linked to decreased plasminogen activator inhibitor-1 (PAI-1) levels and it has been suggested that lower PAI-1 levels may provide protective effects on inflammation, local microcirculatory disturbance, and fibrotic changes, which are likely associated with development of sudden sensorineural hearing loss (SSNHL). METHODS: The association of the 4 G/5 G PAI-1 polymorphism with the development and clinical outcome of SSNHL is evaluated via a case control study. 103 patients with SSNHL and 113 age and sex-matched controls were enrolled at University of Ferrara, Italy and hearing loss outcome was measured at least 3 months after the onset of hearing loss. DNA was isolated from peripheral blood using the QIAamp kit and the 4 G/5 G polymorphism in the -675 promoter region was genotyped with an allele-specific PCR. Genotype distribution was tested in patients and compared to controls by chi-square and odd-ratio analysis. The codominant and recessive models were used for the multiple logistic regression analyses of the PAI-1 gene allele. RESULTS: In this population, 5 G/5 G genotype had a two-time lower frequency in SSNHL patients compared to healthy controls (15.5% vs 30.1%) and was associated with decreased odds compared to 4 G/5 G genotype (OR 0.37, 95% CI 0.19-0.75, p = 0.005). In addition, the patients with 5 G/5 G genotype showed a trend of more than 2 times higher ratio of hearing recovery (> 20 dB) after systemic corticosteroid treatment compared to 4 G/5 G genotype (OR 2.3, 95% CI 0.32 - 16.83, p = 0.39), suggesting a better clinical outcome. CONCLUSIONS: The 5 G/5 G genotype of PAI-1 may be associated with a reduced risk of SSNHL in the Italian population.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Sudden Hearing Loss susceptibilityIAGP 8547731DNA:deletion and haplotype:promoter:g.-676_-674delG (human)RGD 
Sudden Hearing Loss susceptibilityISOSERPINE1 (Homo sapiens)8547731; 8547731DNA:deletion and haplotype:promoter:g.-676_-674delG (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Serpine1  (serpin family E member 1)

Genes (Mus musculus)
Serpine1  (serine (or cysteine) peptidase inhibitor, clade E, member 1)

Genes (Homo sapiens)
SERPINE1  (serpin family E member 1)


Additional Information