RGD Reference Report - A polymorphism at -1607 2G in the matrix metalloproteinase-1 (MMP-1) increased risk of sudden deafness in Korean population but not at -519A/G in MMP-1. - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

A polymorphism at -1607 2G in the matrix metalloproteinase-1 (MMP-1) increased risk of sudden deafness in Korean population but not at -519A/G in MMP-1.

Authors: Nam, SI  Yu, GI  Kim, HJ  Park, KO  Chung, JH  Ha, E  Shin, DH 
Citation: Nam SI, etal., Laryngoscope. 2011 Jan;121(1):171-5. doi: 10.1002/lary.21334.
RGD ID: 8549733
Pubmed: (View Article at PubMed) PMID:21154774
DOI: Full-text: DOI:10.1002/lary.21334

OBJECTIVES/HYPOTHESIS: Matrix metalloproteinase-1 (MMP-1) is associated with a risk of inflammatory disease and cancer invasion. Two common etiologies for sudden deafness (SD) are circulatory disturbance and inflammation. The present study aimed to investigate whether MMP-1 polymorphisms are associated with SD. STUDY DESIGN: Case-control study. Ninety-nine Korean SD patients and 530 normal patients (controls) were used in this study. METHODS: Single nucleotide polymorphism (SNP) of MMP-1 (at -1607G/2G and -519A/G) was analyzed using the pyrosequencing method. RESULTS: At MMP-1 -1607G/2G, the distributions of 2G/2G, G/2G, and G/G genotypes in controls were 36.8%, 44.3%, and 18.9%, respectively, and in SD patients were 46.5%, 48.5%, and 5.1%, respectively. The 2G/2G genotype was found to increase the risk of SD compared with the G/G genotype (codominant model: P = .0029; recessive model: P = .0003). The 2G allele was found to increase the risk of SD compared with the G allele (P = .002). At MMP1 -519A/G, there was no statistically significant increase in the risk of SD. Among haplotypes of MMP-1 polymorphisms -1607G/2G and -519A/G, 2GA and GA were found to be associated with SD (P < .05). CONCLUSIONS: These results suggest that the 2G/2G genotype is associated with an increased risk of SD compared with the G/2G and G/G genotypes. Furthermore, the 2G allele may be a risk factor for SD.

Annotation

Disease Annotations    
Sudden Hearing Loss  (IAGP,ISO)

Objects Annotated

Genes (Rattus norvegicus)
Mmp1  (matrix metallopeptidase 1)

Genes (Mus musculus)
Mmp1a  (matrix metallopeptidase 1a (interstitial collagenase))

Genes (Homo sapiens)
MMP1  (matrix metallopeptidase 1)


Additional Information