RGD Reference Report - A genetic basis of susceptibility to acute pyelonephritis. - Rat Genome Database

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A genetic basis of susceptibility to acute pyelonephritis.

Authors: Lundstedt, AC  McCarthy, S  Gustafsson, MC  Godaly, G  Jodal, U  Karpman, D  Leijonhufvud, I  Linden, C  Martinell, J  Ragnarsdottir, B  Samuelsson, M  Truedsson, L  Andersson, B  Svanborg, C 
Citation: Lundstedt AC, etal., PLoS One. 2007 Sep 5;2(9):e825.
RGD ID: 7207864
Pubmed: PMID:17786197   (View Abstract at PubMed)
PMCID: PMC1950574   (View Article at PubMed Central)
DOI: DOI:10.1371/journal.pone.0000825   (Journal Full-text)

BACKGROUND: For unknown reasons, urinary tract infections (UTIs) are clustered in certain individuals. Here we propose a novel, genetically determined cause of susceptibility to acute pyelonephritis, which is the most severe form of UTI. The IL-8 receptor, CXCR1, was identified as a candidate gene when mIL-8Rh mutant mice developed acute pyelonephritis (APN) with severe tissue damage. METHODS AND FINDINGS: We have obtained CXCR1 sequences from two, highly selected APN prone patient groups, and detected three unique mutations and two known polymorphisms with a genotype frequency of 23% and 25% compared to 7% in controls (p<0.001 and p<0.0001, respectively). When reflux was excluded, 54% of the patients had CXCR1 sequence variants. The UTI prone children expressed less CXCR1 protein than the pediatric controls (p<0.0001) and two sequence variants were shown to impair transcription. CONCLUSIONS: The results identify a genetic innate immune deficiency, with a strong link to APN and renal scarring.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
pyelonephritis  IAGP 7207864DNA:mutations and polymorphisms: :multipleRGD 
pyelonephritis  ISOCXCR1 (Homo sapiens)7207864; 7207864DNA:mutations and polymorphisms: :multipleRGD 

Objects Annotated

Genes (Rattus norvegicus)
Cxcr1  (C-X-C motif chemokine receptor 1)

Genes (Mus musculus)
Cxcr1  (C-X-C motif chemokine receptor 1)

Genes (Homo sapiens)
CXCR1  (C-X-C motif chemokine receptor 1)


Additional Information