RGD Reference Report - IL4 receptor polymorphism is associated with increased risk of sudden deafness in Korean population. - Rat Genome Database

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IL4 receptor polymorphism is associated with increased risk of sudden deafness in Korean population.

Authors: Nam, SI  Ha, E  Jung, KH  Baik, HH  Yoon, SH  Park, HJ  Choe, BK  Chung, JH  Seo, JC  Lee, MY  Bae, JH  Nam, M  Choi, IJ  Kim, JG  Shin, DH 
Citation: Nam SI, etal., Life Sci. 2006 Jan 2;78(6):664-7. Epub 2005 Nov 8.
RGD ID: 7829784
Pubmed: PMID:16280132   (View Abstract at PubMed)
DOI: DOI:10.1016/j.lfs.2005.05.089   (Journal Full-text)

The interleukin 4 receptor (IL4R) polymorphism Q576R (rs 180275) has been well known to be associated with atopy and other inflammatory diseases. A single nucleotide polymorphism (SNP) A > G transition potentiates the binding specificity of the adjacent tyrosine residue. In this study we investigated the possible relationship between sudden deafness (SD) and IL4R polymorphism Q576R in 97 Korean SD patients and 613 controls using pyrosequencing method. The odds ratio (OR) for SD associated with the G vs. A allele was 2.58 [P < 0.0001, 95% confidence interval (CI) = 1.84-3.60]. We then sub-grouped SD into Tinnitus positive (+) and Tinnitus negative (-). G allele in Tinnitus (+) is significantly associated with the development of Tinnitus (+) [X(2) = 32.02, P < 0.0001, OR (95% CI) = 2.74 (1.91-3.93)] but not with Tinnitus (-). Taken together these results suggest that G allele could be a risk factor for SD.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Sudden Hearing Loss  IAGP 7829784DNA:SNP: :p.Q576R (rs 180275) (human)RGD 
Sudden Hearing Loss  ISOIL4R (Homo sapiens)7829784; 7829784DNA:SNP: :p.Q576R (rs 180275) (human)RGD 
Tinnitus  IAGP 7829784associated with Hearing Loss more ...RGD 
Tinnitus  ISOIL4R (Homo sapiens)7829784; 7829784associated with Hearing Loss more ...RGD 

Objects Annotated

Genes (Rattus norvegicus)
Il4r  (interleukin 4 receptor)

Genes (Mus musculus)
Il4ra  (interleukin 4 receptor, alpha)

Genes (Homo sapiens)
IL4R  (interleukin 4 receptor)


Additional Information