title: PADI4 polymorphisms and related haplotype in rheumatoid arthritis patients.
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.
authors: Medical Biochemistry Department, Faculty of Medicine, Zagazig University, Zagazig, Egypt. dr.somiahassan@yahoo.com
authors: Somia H
authors: SH
authors: Abd-Allah
authors: Amal S
authors: AS
authors: el-Shal
authors: Sally M
authors: SM
authors: Shalaby
authors: Heba F
authors: HF
authors: Pasha
authors: Amany M
authors: AM
authors: Abou el-Saoud
authors: Amany R
authors: AR
authors: el-Najjar
authors: Eman E
authors: EE
authors: el-Shahawy
mesh_terms: D000328:Adult; D001172:Arthritis, Rheumatoid / Q000208:ethnology / Q000235:genetics*; D016022:Case-Control Studies; D004534:Egypt; D005260:Female; D020022:Genetic Predisposition to Disease / Q000208:ethnology / Q000235:genetics; D005838:Genotype; D006239:Haplotypes / Q000235:genetics*; D006801:Humans; D006867:Hydrolases / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D000080002:Protein-Arginine Deiminase Type 4; D000076342:Protein-Arginine Deiminases; D012720:Severity of Illness Index
chemical_list: D006867:Hydrolases; C000629235:PADI4 protein, human; D000080002:Protein-Arginine Deiminase Type 4; D000076342:Protein-Arginine Deiminases