AB0181 ASSOCIATION BETWEEN SINGLE NUCLEOTIDE POLYMORPHISMS (SNPS) OF THE BAFF GENE AND FATIGUE IN PRIMARY SJöGREN’S SYNDROME
Authors: Christina Maria Flessa, Adrianos Nezos, Evangelia Zampeli, Haralampos M. Moutsopoulos, Clio Mavragani
Journal: Annals of the Rheumatic Diseases (2019)

<h3>Background:</h3> Primary Sjögren's Syndrome (SS) is characterized by B lymphocyte hyperactivity with B cell activating factor (BAFF) acting as an important regulator. Single Nucleotide Polymorphisms (SNPs) of the <i>BAFF</i> gene have been implicated in the pathogenesis of several autoimmune diseases including lupus and SS both of which are characterized by heightened fatigue levels, often compromising quality of life. <h3>Objectives:</h3> To explore potential associations between several <i>BAFF</i> gene SNPs and fatigue status experienced by primary SS patients. <h3>Methods:</h3> Fatigue status was assessed by Functional Assessment of Chronic Illness Therapy–Fatigue (FACIT-F) scale in 178 primary SS patients. Five SNPs (rs9514827, rs1041569, rs9514828, rs1224141, rs12583006) of the <i>BAFF</i> gene were tested in DNA extracted from peripheral blood of all patients enrolled in the study using the RFLP-PCR method. A cut-off value of &lt;30 was used, which indicates severe fatigue. Analysis of BAFF SNPs in association with fatigue levels was performed by the online platform SNPStats. <h3>Results:</h3> The frequency of T/T genotype of both rs9514828 and rs1224141 was reduced in primary SS patients with severe fatigue compared to those without (17.9% vs 36.7%, p=0.0094 and 51.8 vs 69.2%, p=0.027, respectively. The corresponding ORs [95%CI] in the dominant model were 0.38 [0.17-0.82] and 0.48 [0.25-0.92], respectively. No statistically significant associations between fatigue status and other SNPs tested were detected. <h3>Conclusion:</h3> We report novel associations between genetic makeup and primary SS-associated fatigue with the rs9514828 and rs1224141 <i>BAFF</i> T/T genotypes decreasing the likelihood of fatigue development among these patients. These findings need to be validated in multi-center studies. <h3>References</h3> [1] Mavragani, C.P. and H.M. Moutsopoulos, Sjogren's syndrome. Annu Rev Pathol, 2014. 9: p.273-85. [2] Koçer, B., Tezcan, M. E., Batur, H. Z., Haznedaroğlu, Ş., Göker, B., İrkeç, C. and Çetinkaya, R., Cognition, depression, fatigue, and quality of life in primary Sjögren's syndrome: correlations. Brain and Behavior,2016. 6: p.1–11. [3] Karageorgas, T., et al., Fatigue in Primary Sjogren's Syndrome: Clinical, Laboratory, Psychometric, and Biologic Associations. Arthritis Care Res (Hoboken), 2016. 68(1): p. 123-31. [4] Norheim, K.B., et al., A possible genetic association with chronic fatigue in primary Sjogren's syndrome: a candidate gene study. Rheumatol Int, 2014. 34(2): p.191-7. <h3>Acknowledgement:</h3> This research is co-financed by Greece and the European Union (European Social Fund-ESF) through the Operational Programme «Human Resources Development, Education and Lifelong Learning» in the context of the project "Strengthening Human Resources Research Potential via Doctorate Research" (MIS-5000432), implemented by the State Scholarships Foundation (ΙκΥ). <h3>Disclosure of Interests:</h3> Christina Maria Flessa: None declared, Adrianos Nezos: None declared, Evangelia Zampeli Speakers bureau: Roshe, Astrazeneca, Haralampos M. Moutsopoulos: None declared, Clio Mavragani: None declared