CD28 and PTPN22 are associated with susceptibility to rheumatoid arthritis in Egyptians
| Autor: | Mohsen M, Hegab, Aml Fawzy, Abdelwahab, Ali M, El-Sayed Yousef, Mohamed Nabil, Salem, Walaa, El-Baz, Sherry, Abdelrhman, Fatemah, Elshabacy, Abdelazim, Alhefny, Wagida, Abouraya, Saleh Mohamed, Ibrahim, Gaafar, Ragab, Janine Mia, Rudolph |
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| Rok vydání: | 2015 |
| Předmět: |
musculoskeletal diseases
0301 basic medicine Adult Male Adolescent Genotype Immunology Single-nucleotide polymorphism TNFAIP3 Polymorphism Single Nucleotide PTPN22 Arthritis Rheumatoid Cohort Studies 03 medical and health sciences Young Adult 0302 clinical medicine CD28 Antigens Gene Frequency Immunology and Allergy Medicine Rheumatoid factor Humans Genetic Predisposition to Disease skin and connective tissue diseases Genetic association 030203 arthritis & rheumatology business.industry Protein Tyrosine Phosphatase Non-Receptor Type 22 General Medicine Middle Aged medicine.disease 030104 developmental biology Rheumatoid arthritis Case-Control Studies PADI4 Cohort Egypt Female business |
| Zdroj: | Human immunology. 77(6) |
| ISSN: | 1879-1166 |
| Popis: | Objective Limited data are available on the genetics of rheumatoid arthritis (RA) in Egyptians. Therefore, we investigated whether the confirmed genetic risk factors for RA in Europeans and/or Asians contribute to RA susceptibility in Egyptians. Subjects and methods A set of seven single-nucleotide polymorphisms (SNPs) in the vicinity of CD28, TNFAIP3, PTPN22, PADI4 and HLA-DRA were tested in a large multi-centric RA cohort in Egypt, consisting of 394 cases and 398 matched controls. Patients were stratified based on the positivity of either anti-citrullinated protein antibodies (ACPAs) or rheumatoid factor (RF). Results Significant association was evident for three SNPs in this cohort: the CD28 (rs1980422) variant showed a strong association in the whole cohort (P = 0.000119) and in seropositive subsets of the disease (PACPA+ = 0.004; PRF+ = 0.0005). Upon stratification, the PTPN22 (rs2476601) and TNFAIP3(rs5029939) variants showed association only with ACPA positive (PACPA+ = 0.00573) and negative (PACPA− = 0.00999) phenotypes, respectively. Conclusion Our results suggest that CD28(rs1980422) and PTPN22(rs2476601) contribute to RA-susceptibility in Egyptians. Failure to replicate the association of PADI4(rs2240340)/(PADI4_94) in Egyptian RA patients provides further support for the notion that genetic architecture of RA is different in multiple populations of European, Asian, African, and Middle Eastern ancestries. Further investigation using large-scale studies is thus needed to maximize the power of genetic association. |
| Databáze: | OpenAIRE |
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