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Genetic and expression analysis of SNP s in the human deoxyribonuclease II: SNP s in the promoter region reduce its in vivo activity through decreased promoter activity
Five SNP s in the human DN ase II gene have been reported to be associated with rheumatoid arthritis ( RA ). Genotype and haplotype analysis of 14 SNP s, nine SNPs of which reported in the NCBI db SNP database in addition to these five SNP s, was performed in healthy subjects. The enzymatic activiti...
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Published in: | Electrophoresis 2012-09, Vol.33 (18), p.2852-2858 |
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Main Authors: | , , , , , , , , , , , , |
Format: | Article |
Language: | English |
Citations: | Items that this one cites Items that cite this one |
Online Access: | Get full text |
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Summary: | Five
SNP
s in the human
DN
ase II gene have been reported to be associated with rheumatoid arthritis (
RA
). Genotype and haplotype analysis of 14
SNP
s, nine SNPs of which reported in the
NCBI
db
SNP
database in addition to these five
SNP
s, was performed in healthy subjects. The enzymatic activities of the amino acid substituted
DN
ase II corresponding to each
SNP
and serum
DN
ase II in healthy Japanese, and promoter activities derived from each haplotype of the
RA
‐related
SNP
s were measured. Significant correlations between genotype in each
RA
‐related
SNP
and enzymatic activity levels were found; alleles associated with
RA
exhibited a reduction in serum
DN
ase II activity. Furthermore, the promoter activities of each reporter construct corresponding to predominant haplotypes in three
SNP
s in the promoter region of the gene exhibited significant correlation with levels of serum
DN
ase II activity. These findings indicate these three
SNP
s could alter the promoter activity of
DNASE
2
, leading to a decline in
DN
ase II activity in the serum through gene expression. Since the three
SNP
s in the promoter region of the
DN
ase II gene could affect in vivo
DN
ase II activity through reduction of the promoter activity, it is feasible to identify these
SNP
s susceptible to
RA
. |
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ISSN: | 0173-0835 1522-2683 |
DOI: | 10.1002/elps.201200260 |