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A polymorphism in the human UGRP1 gene promoter that regulates transcription is associated with an increased risk of asthma.

Authors: Niimi, T  Munakata, M  Keck-Waggoner, CL  Popescu, NC  Levitt, RC  Hisada, M  Kimura, S 
Citation: Niimi T, etal., Am J Hum Genet. 2002 Mar;70(3):718-25. Epub 2002 Jan 25.
Pubmed: (View Article at PubMed) PMID:11813133
DOI: Full-text: DOI:10.1086/339272

Several traits associated with asthma phenotypes, such as high total serum immunoglobulin E and bronchial hyperresponsiveness, have been linked by numerous genome-screen studies and linkage analyses to markers on human chromosome 5q31-q34. In the present article, we describe UGRP1 (encoding uteroglobin-related protein 1) as one of asthma-susceptibility genes that is located on chromosome 5q31-q32. UGRP1 is a homodimeric secretory protein of 17 kDa and is expressed only in lung and trachea. The G --> A polymorphism was identified at -112 bp in the human UGRP1 gene promoter. The -112A allele is responsible for a 24% reduction in the promoter activity in relation to the -112G allele, as examined by transfection analysis. Electrophoretic mobility-shift analysis revealed that an unknown nuclear factor binds to the region around -112 bp. The binding affinity with the -112A oligonucleotide was reduced by approximately one half, as compared with the -112G oligonucleotide. In a case-control study using 169 Japanese individuals (84 patients with asthma and 85 healthy control individuals), those with a -112A allele (G/A or A/A) were 4.1 times more likely to have asthma than were those with the wild-type allele (G/G).

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CRRD Object Information
CRRD ID: 5144229
Created: 2011-08-02
Species: All species
Last Modified: 2011-08-02
Status: ACTIVE



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