Affiliations: Endocrinology and Metabolism Research Centre, Tehran
University of Medical Sciences, Tehran, Iran | Centre for Integrated Genomic Medical Research,
Manchester University Medical School, Manchester, UK, USA | Divisions of Rheumatology and Pediatrics Hospital
Xeral-Calde, Lugo, Spain
Abstract: Increased expression of epithelial cell-derived
neutrophil-activating peptide (ENA-78) has been reported in several immune and
inflammatory conditions suggesting its role in inflammatory response. We have
identified two single nucleotide polymorphisms in the promoter and exon 2 of
the ENA-78 gene by scanning the full length gene using DHPLC DNA fragment
analysis and DNA sequencing. The polymorphism at position +398 (A/G from the
first ATG codon) in exon 2 results in a synonymous substitution not resulting
in an amino acid change. The promoter polymorphism was found at position
-156 (C/G from the first ATG codon). An assay was designed
for the detection of the polymorphisms using SNapshot ddNTP primer extension,
followed by capillary electrophoresis (ABI 3100). Allele and genotype frequencies for the promoter
-156 polymorphism are presented for 107 healthy Spanish and
54 UK Caucasians. Frequencies for the exon 2 polymorphism are also presented
for 63 UK Caucasians.
