11813133

umls-concept:C0004096, umls-concept:C0017337, umls-concept:C0035647, umls-concept:C0040649, umls-concept:C0086418, umls-concept:C0086860, umls-concept:C0205217, umls-concept:C0332281, umls-concept:C0851285, umls-concept:C1425493, umls-concept:C1882417

2002-3-6

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).

eng

IM

MEDLINE

0002-9297

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NLM

718-25

pubmed-meshheading:11813133-Alleles, pubmed-meshheading:11813133-Asthma, pubmed-meshheading:11813133-Base Sequence, pubmed-meshheading:11813133-Carrier Proteins, pubmed-meshheading:11813133-Case-Control Studies, pubmed-meshheading:11813133-Chromosomes, Human, Pair 5, pubmed-meshheading:11813133-DNA, pubmed-meshheading:11813133-DNA-Binding Proteins, pubmed-meshheading:11813133-Electrophoretic Mobility Shift Assay, pubmed-meshheading:11813133-Exons, pubmed-meshheading:11813133-Gene Expression Regulation, pubmed-meshheading:11813133-Gene Frequency, pubmed-meshheading:11813133-Genetic Predisposition to Disease, pubmed-meshheading:11813133-Humans, pubmed-meshheading:11813133-Immunoglobulin E, pubmed-meshheading:11813133-In Situ Hybridization, Fluorescence, pubmed-meshheading:11813133-Introns, pubmed-meshheading:11813133-Japan, pubmed-meshheading:11813133-Molecular Sequence Data, pubmed-meshheading:11813133-Nuclear Proteins, pubmed-meshheading:11813133-Polymorphism, Genetic, pubmed-meshheading:11813133-Promoter Regions, Genetic, pubmed-meshheading:11813133-Secretoglobins, pubmed-meshheading:11813133-Substrate Specificity, pubmed-meshheading:11813133-Transcription, Genetic, pubmed-meshheading:11813133-Transcription Factors, pubmed-meshheading:11813133-Uteroglobin

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

Journal Article