RGD Reference Report - Single nucleotide polymorphisms of toll-like receptor-4 protect against acne conglobata. - Rat Genome Database

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Single nucleotide polymorphisms of toll-like receptor-4 protect against acne conglobata.

Authors: Grech, I  Giatrakou, S  Damoraki, G  Pistiki, A  Kaldrimidis, P  Giamarellos-Bourboulis, EJ  Stavrianeas, N 
Citation: Grech I, etal., J Eur Acad Dermatol Venereol. 2012 Dec;26(12):1538-43. doi: 10.1111/j.1468-3083.2011.04338.x. Epub 2011 Nov 16.
RGD ID: 7777157
Pubmed: PMID:22085193   (View Abstract at PubMed)
DOI: DOI:10.1111/j.1468-3083.2011.04338.x   (Journal Full-text)

BACKGROUND: Former studies have shown that Propionibacterium acnes may stimulate expression of toll-like receptor 4 (TLR4) in keratinocytes of patients with acne vulgaris. OBJECTIVE: To investigate the impact of single nucleotide polumorphisms (SNPs) of the TLR4 gene in acne vulgaris. METHODS: Genomic DNA was isolated from 191 patients with acne vulgaris and 75 healthy controls. Asp299Gly and Thr399Ile SNPs were defined after cutting of the PCR products by restriction enzymes. Sebum of lesions was cultured for P. acnes. RESULTS: No differences in SNP allele frequencies were found between patients and healthy controls. 46.5% of carriers of wild-type alleles were suffering from acne conglobata compared with 28.6% of carriers of SNP alleles (P=0.040). After adjusting for gender, family history of acnes, intake of any therapy and skin isolation of P. acnes, carriage of TLR4 gene SNPs was the only independent variable linked with a protective role against acne conglobata (OR=0.269, P=0.014). No differences were found in the amount of pro-inflammatory cytokines released by peripheral blood mononuclear cells isolated from patients with acne conglobata carrying only wild-type alleles and SNP alleles. CONCLUSIONS: Carriage of gene SNPs is protective against the development of acne conglobata even in the presence of P. acnes.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Acne Conglobata susceptibilityIAGP 7777157DNA:polymorphisms:exons:p.D299G and T399I(human)RGD 
Acne Conglobata susceptibilityISOTLR4 (Homo sapiens)7777157; 7777157DNA:polymorphisms:exons:p.D299G and T399I(human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Tlr4  (toll-like receptor 4)

Genes (Mus musculus)
Tlr4  (toll-like receptor 4)

Genes (Homo sapiens)
TLR4  (toll like receptor 4)


Additional Information