RGD Reference Report - Female-specific association of C-C chemokine receptor 5 gene polymorphisms with Lofgren's syndrome. - Rat Genome Database

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Female-specific association of C-C chemokine receptor 5 gene polymorphisms with Lofgren's syndrome.

Authors: Fischer, A  Valentonyte, R  Nebel, A  Nothnagel, M  Muller-Quernheim, J  Schurmann, M  Schreiber, S 
Citation: Fischer A, etal., J Mol Med. 2008 May;86(5):553-61. Epub 2008 Mar 1.
RGD ID: 4892086
Pubmed: PMID:18311470   (View Abstract at PubMed)
DOI: DOI:10.1007/s00109-008-0315-5   (Journal Full-text)

C-C chemokine receptors have been suggested to play an important role in sarcoidosis pathogenesis. Previous investigation of the C-C chemokine receptor 5 (CCR5) gene revealed the association of the HHC haplotype with "persistent lung involvement" in two European sarcoidosis populations. Based on this finding, we investigated a possible association of the HHC haplotype and its marker alleles in an extended German sarcoidosis sample that comprised 995 German sarcoidosis families including individuals with the chronic and acute form of the disease, further refined to patients with and without Lofgren's syndrome. We genotyped this sample and 538 healthy control subjects for 8 single nucleotide polymorphisms (SNPs) that define the HHC haplotype in the CCR5 genomic region. Analysis of 3 sarcoidosis phenotypes (chronic, acute and Lofgren's syndrome) revealed that the HHC haplotype was not associated with chronic sarcoidosis although a substantial overlap can be assumed between the chronic form examined in our study and "persistent parenchymal lung involvement", the phenotype for which an association was previously established. However, 2 marker alleles in the putative CCR5 promoter, which are part of the HHC haplotype, are associated with Lofgren's syndrome. Strikingly, the association is restricted to females. This finding is consistent with recently described sex-specific manifestations of Lofgren's syndrome and with previous functional studies suggesting an estrogen-dependent CCR5 expression. The female-specific association of SNPs in the putative CCR5 promoter region with Lofgren's syndrome raises the possibility that the dysregulated, sex-specific modification of CCR5 expression could contribute to the increased risk of women to develop the disease.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
sarcoidosis  IAGP 4892086Lofgren Syndrome and DNA:polymorphisms:5' utr:multiple (human)RGD 
sarcoidosis  ISOCCR5 (Homo sapiens)4892086; 4892086Lofgren Syndrome and DNA:polymorphisms:5' utr:multiple (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Ccr5  (C-C motif chemokine receptor 5)

Genes (Mus musculus)
Ccr5  (C-C motif chemokine receptor 5)

Genes (Homo sapiens)
CCR5  (C-C motif chemokine receptor 5)


Additional Information