TY - JOUR
T1 - CD28 and PTPN22 are associated with susceptibility to rheumatoid arthritis in Egyptians
AU - Hegab, Mohsen M.
AU - Abdelwahab, Aml Fawzy
AU - El-Sayed Yousef, Ali M.
AU - Salem, Mohamed Nabil
AU - El-Baz, Walaa
AU - Abdelrhman, Sherry
AU - Elshabacy, Fatemah
AU - Alhefny, Abdelazim
AU - Abouraya, Wagida
AU - Ibrahim, Saleh Mohamed
AU - Ragab, Gaafar
PY - 2016/6/1
Y1 - 2016/6/1
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=84975105639&partnerID=8YFLogxK
U2 - 10.1016/j.humimm.2016.04.018
DO - 10.1016/j.humimm.2016.04.018
M3 - Journal articles
C2 - 27125674
AN - SCOPUS:84975105639
SN - 0198-8859
VL - 77
SP - 522
EP - 526
JO - Human immunology
JF - Human immunology
IS - 6
ER -
