title: IRF5, PTPN22, CD28, IL2RA, KIF5A, BLK and TNFAIP3 genes polymorphisms and lupus susceptibility in a cohort from the Egypt Delta; relation to other ethnic groups.
abstract: OBJECTIVE
  To replicate a single nucleotide polymorphism (SNP) of known genes for lupus (IRF5 rs10488631, PTPN22 rs2476601, BLK rs2736340 and TNFAIP3 rs5029939) and other autoimmune diseases (CD28 rs1980422, IL2RA rs2104286 and KIF5A rs1678542) on a newly studied Egyptian cohort to investigate the genetic disparity with different studied ethnic groups in relation to lupus susceptibility.
  
  
  METHODS
  170 Egyptian patients from Egypt Delta with SLE and 241 matched healthy controls were genotyped by Taqman real time PCR for the selected SNPs.
  
  
  RESULTS
  The results revealed significant association with IRF5 (p<0.0001) and PTPN22 (p=0.008) and insignificant association with KIF5A, CD28, IL2RA, BLK and TNFAIP3 genes.
  
  
  CONCLUSIONS
  This study may provide an additional evidence for the association between IRF5 and PTPN22 and lupus susceptibility and may exclude it for CD28, IL2RA, and KIF5A.
authors.affiliation: Clinical Pathology Department, Faculty of Medicine, Mansoura University, Mansoura, Egypt. Electronic address: drashrafantar@mans.edu.eg.
authors.forename: Ashraf A
authors.initials: AA
authors.lastname: Elghzaly
authors.affiliation: Clinical Pathology Department, Faculty of Medicine, Mansoura University, Mansoura, Egypt. Electronic address: shereen_salah@ymail.com.
authors.forename: Shereen S
authors.initials: SS
authors.lastname: Metwally
authors.affiliation: Clinical Pathology Department, Faculty of Medicine, Mansoura University, Mansoura, Egypt. Electronic address: dr_farha@mans.edu.eg.
authors.forename: Farha A
authors.initials: FA
authors.lastname: El-Chennawi
authors.affiliation: Dermatology and Andrology Department, Faculty of Medicine, Mansoura University, Mansoura, Egypt. Electronic address: elgayar_m@yahoo.com.
authors.forename: Maha A
authors.initials: MA
authors.lastname: Elgayaar
authors.affiliation: Clinical Pathology Department, Faculty of Medicine, Mansoura University, Mansoura, Egypt. Electronic address: youssefmosaad@yahoo.com.
authors.forename: Youssef M
authors.initials: YM
authors.lastname: Mosaad
authors.affiliation: Internal Medicine Department, Faculty of Medicine, Mansoura University, Mansoura, Egypt. Electronic address: Ehabeltoraby@yahoo.com.
authors.forename: Ehab E
authors.initials: EE
authors.lastname: El-Toraby
authors.affiliation: Molecular Medicine Group, Department of Reproductive Medicine, Division of Medical Research, National Research Center, Egypt. Electronic address: mohsenhegab@gmail.com.
authors.forename: Mohsen M
authors.initials: MM
authors.lastname: Hegab
authors.affiliation: Dermatology Department, Lübeck University, Lübeck, Germany. Electronic address: Saleh.Ibrahim@uksh.de.
authors.forename: Saleh M
authors.initials: SM
authors.lastname: Ibrahim
mesh_terms: D018106:CD28 Antigens / Q000235:genetics; D016022:Case-Control Studies; D004268:DNA-Binding Proteins / Q000235:genetics; D020022:Genetic Predisposition to Disease; D006801:Humans; D050835:Interferon Regulatory Factors / Q000235:genetics; D053645:Interleukin-2 Receptor alpha Subunit / Q000235:genetics; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics; D016547:Kinesins / Q000235:genetics; D008180:Lupus Erythematosus, Systemic / Q000208:ethnology / Q000209:etiology / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics; D020641:Polymorphism, Single Nucleotide; D054596:Protein Tyrosine Phosphatase, Non-Receptor Type 22 / Q000235:genetics; D000072598:Tumor Necrosis Factor alpha-Induced Protein 3; D019061:src-Family Kinases / Q000235:genetics
chemical_list: D018106:CD28 Antigens; D004268:DNA-Binding Proteins; C431713:IRF5 protein, human; D050835:Interferon Regulatory Factors; D053645:Interleukin-2 Receptor alpha Subunit; D047908:Intracellular Signaling Peptides and Proteins; C500506:KIF5A protein, human; D009687:Nuclear Proteins; C584409:BLK protein, human; D019061:src-Family Kinases; C516765:PTPN22 protein, human; D054596:Protein Tyrosine Phosphatase, Non-Receptor Type 22; C076529:TNFAIP3 protein, human; D000072598:Tumor Necrosis Factor alpha-Induced Protein 3; D016547:Kinesins
keywords: Association; Egyptians; Ethnicity; Genetics; Lupus