PADI4 polymorphisms and related haplotype in rheumatoid arthritis patients - 03/03/12
, Amal S. El-Shal a, Sally M. Shalaby a, Heba F. Pasha a, Amany M. Abou El-Saoud b, Amany R. El-Najjar b, Eman E. El-Shahawy b
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Abstract |
Objective |
To investigate whether peptidyl arginine deiminase type IV gene (PADI4) polymorphisms contribute to rheumatoid arthritis (RA) susceptibility in Egyptians, whether they influence disease severity and activity, and whether they affect anti-mutated citrullinated vimentin antibodies (anti-MCV) level.
Methods |
Three PADI4 single nucleotide polymorphisms (SNPs) (PADI4-92, PADI4-96, and PADI4-102) were screened in 275 RA patients and 275 unaffected controls by polymerase chain reaction-based restriction fragment length polymorphism (PCR-RFLP) method. Serum anti-MCV levels were measured by enzyme-linked immunosorbent assay (ELISA).
Results |
There were significant associations between RA susceptibility with the minor alleles of PADI4-92 and PADI4-102 [odds ratio (OD) and 95% confidence interval (CI) for the minor alleles of PADI4-92 and PADI4-102: 1.48 (1.17–1.88) and 2.05 (1.61–2.61) respectively] but not with PADI4-96 [OD and 95% CI for the C allele: 1.09 (0.86–1.39)]. PADI4 haplotypes 2 (GCC) and 3 (GCT) were also associated with RA susceptibility while PADI4 haplotypes 1 (CTC) may be protective against developing of this disease. A significant association was detected between PADI4 haplotypes and RA severity.
Conclusions |
The PADI4 SNPs and haplotypes were associated with RA susceptibility, although no relation was observed between the PADI4 haplotypes and anti-MCV levels.
Le texte complet de cet article est disponible en PDF.Keywords : Rheumatoid arthritis, PADI4, Anti-MCV, Single nucleotide polymorphism
Abbreviations : RA, HLA-DRBI, PADI4, anti-CCP, anti-MCV
Plan
Vol 79 - N° 2
P. 124-128 - mars 2012 Retour au numéro
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