Abstract:
:To explore the genetic association of single nucleotide polymorphisms (SNPs) in the coding region of the NOTCH4, exon 3 C+1297T and exon 5 A+3063G, in a case-control analysis of 58 rheumatoid arthritis (RA) and 98 alopecia areata (AA) and 100 ethnically matched healthy subjects. NOTCH4 polymorphisms were genotyped by standard PCR followed by restriction digestion. Analysis of C+1297T SNP revealed a significant association of allele C+1297 (p=0.03, OR=1.66, 95%CI 1.04-2.64) and genotype CT (p=0.002, OR=2.82, 95%CI 1.42-5.59) with susceptibility to RA. Analysis of A+3063G SNP revealed a significant association of allele A+3063 (p=0.05, OR=0.59, 95%CI 0.35-1.008) and genotype AA (p=0.002, OR=0.39, 95%CI 0.17-0.87) with RA. Over all analysis between alopecia patients and the studied SNPs failed to show any significant association. Classifying the patients by severity of disease, confined the risk role of CT genotype to the severest form of alopecia universalis (p=0.006, OR=3.82, 95%CI 1.39-3.82) and AG genotype to semiuniversalis alopecia (p=0.004, OR=4.3, 95%CI 1.5-15.3). Present study is the first to report a statistically significant association between RA and NOTCH4 polymorphisms.
journal_name
Immunol Lettjournal_title
Immunology lettersauthors
AlFadhli S,Nanda Adoi
10.1016/j.imlet.2013.01.002subject
Has Abstractpub_date
2013-02-01 00:00:00pages
130-3issue
1-2eissn
0165-2478issn
1879-0542pii
S0165-2478(13)00004-7journal_volume
150pub_type
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