OBJECTIVE: Two interferon regulatory factor 5 (IRF5) gene variants were examined for association with rheumatoid arthritis (RA). METHODS: A total of 2300 patients with RA and 1836 controls were recruited from 2 independent RA studies in Sweden. One insertion-deletion polymorphism (CGGGG indel) and one single-nucleotide polymorphism (rs10488631) in the IRF5 gene were genotyped and analyzed within RA subgroups stratified by rheumatoid factor (RF) and anticitrullinated peptide antibodies (ACPA). RESULTS: The CGGGG indel was preferentially associated with the RF-negative (OR 1.29, p = 7.9 × 10(-5)) and ACPA-negative (OR 1.27, p = 7.3 × 10(-5)) RA subgroups compared to the seropositive counterparts. rs10488631 was exclusively associated within the seronegative RA subgroups (RF-negative: OR 1.24, p = 0.016; ACPA-negative: OR 1.27, p = 4.1 × 10(-3)). CONCLUSION: Both the CGGGG indel and rs10488631 are relevant for RA susceptibility, especially for seronegative RA.
OBJECTIVE: Two interferon regulatory factor 5 (IRF5) gene variants were examined for association with rheumatoid arthritis (RA). METHODS: A total of 2300 patients with RA and 1836 controls were recruited from 2 independent RA studies in Sweden. One insertion-deletion polymorphism (CGGGG indel) and one single-nucleotide polymorphism (rs10488631) in the IRF5 gene were genotyped and analyzed within RA subgroups stratified by rheumatoid factor (RF) and anticitrullinated peptide antibodies (ACPA). RESULTS: The CGGGG indel was preferentially associated with the RF-negative (OR 1.29, p = 7.9 × 10(-5)) and ACPA-negative (OR 1.27, p = 7.3 × 10(-5)) RA subgroups compared to the seropositive counterparts. rs10488631 was exclusively associated within the seronegative RA subgroups (RF-negative: OR 1.24, p = 0.016; ACPA-negative: OR 1.27, p = 4.1 × 10(-3)). CONCLUSION: Both the CGGGG indel and rs10488631 are relevant for RA susceptibility, especially for seronegative RA.
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Authors: Sarah A Jones; Stuart Cantsilieris; Huapeng Fan; Qiang Cheng; Brendan E Russ; Elena J Tucker; James Harris; Ina Rudloff; Marcel Nold; Melissa Northcott; Wendy Dankers; Andrew E J Toh; Stefan J White; Eric F Morand Journal: Sci Rep Date: 2019-10-28 Impact factor: 4.379