ASSOCIATIONS BETWEEN ANXA11 RS1049550 C/T, BTNL2 RS2076530 G/A, HLA CLASS I AND II POLYMORPHISMS AND SARCOIDOSIS EVOLUTION Manuel Vaz1, Bruno Lima2, Natália.

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ASSOCIATIONS BETWEEN ANXA11 RS1049550 C/T, BTNL2 RS2076530 G/A, HLA CLASS I AND II POLYMORPHISMS AND SARCOIDOSIS EVOLUTION Manuel Vaz1, Bruno Lima2, Natália Melo1, Patrícia Mota1,3 ,António Morais1,3 1Pulmonology Department, University Hospital São João, EPE, Porto; 2Oficina de Bioestatística, Ermesinde, Portugal; 3Faculty of Medicine, University of Porto, Portugal; METHODS Aim Analysis of associations between ANXA11 rs1049550, BTNL2 rs2076530, HLA class I/II polymorphisms, the potential interaction effect among them and sarcoidosis outcome. 138 patients included (37.2±12.1 years, 56.5% women). Evidence of disease after 2 years was considered chronic sarcoidosis. Samples were genotyped for ANXA11 rs1049550 C/T and BTNL2 rs2076530 G/A using rt-PCR and for HLA by PCR-SSP. Differences between groups were evaluated through X2-test (or Fisher exact test) in univariate analysis and logistic regression in multivariate analysis. RR or OR and 95% confidence intervals were calculated. RESULTS Table 1. Clinical and demographic characteristics of the Sarcoidosis patients Chronicity (72) Resolution (66) Characteristic: na % Female gender 34 47.2% 44 66.7% Ageb 40.25 ±13.07 33.91 ±9.97 Radiological staging at diagnosis Stage 0 2 2.8% 0.0% Stage I 16 22.2% 28 42.4% Stage II 32 48.5% Stage III 5 6.9% 7.6% Stage IV 15 20.8% 1 1.5% With Extratoraxic envolvement 39 54.2% 22 33.3% With Eritema Nodosum 7.5% 25 38.5% without information a Values expressed as number of sarcoidosis patients, except where otherwise indicated. b Values expressed as mean ± SD Table 2. HLA allele association with sarcoidosis evolution chronicity resolution Allele RR 95%CI p value A*11 7 (4.9%)a 13 (9.8%)a 0.65 0.35 – 1.2 0.11 B*14 5 (3.5%)a 12 (9.1%)a 0.55 0.26 – 1.15 0.05 B*18 DRB1*01 8 (5.6%)a 16 (12.1%)a 0.62 0.35 – 1.11 DRB1*03 28 (21.2%)a 0.35 0.18 – 0.69 < 0.001 DRB1*07 23 (16.0%)a 1.31 1.0 – 1.72 0.09 DRB1*12 9 (6.3%)a 2 (1.5%)a 1.61 1.19 – 2.17 0.04 DQB1*02 28 (19.4%)a 39 (29.5%)a 0.75 0.55 – 1.02 Total (2n) 144 132 a allele frequencies; RR - Relative Risk; CI - Confidence Interval; n - number of patients Comparisons of HLA allele frequencies between chronicity and resolution were performed by X2-test; Table 3. Annexin A11 rs1049550 C/T SNP association with sarcoidosis evolution chronicity resolution Allele RR 95%CI p value rs1049550 C 95 (66.0%)a 88 (66.7%)a 0.9 rs1049550 T 49 (34.0%)a 44 (33.3%)a Total (2n) 144 132 Genotype CC 34 (47.2%) 30 (45.5%) CT 37 (37.5%) 28 (42.4%) TT 11 (15.3%) 8 (12.1%) Total (n) 72 66 a allele frequencies; RR - Relative Risk; CI - Confidence Interval; n - number of patients Comparisons of the allele frequencies of annexin A11 variants between chronicity and resolution were performed by X2-test; comparisons of the genotype frequencies were performed by X2-test for trend normalized to the CC homozygote’s (odds ratio set to 1). Table 5. Logistic regression model of association of DRB1*03 with sarcoidosis evolution to chronicity Variables in the model: OR 95%CI p-value pc ANXA-T 0.77 0.36 – 1.61 0.48 ns BTNL2-A 0.66 0.23 – 1.92 0.45 DRB1*03 0.13 0.05 – 0.35 <0.0001 <0.01 OR Odds Ratio; CI - Confidence Interval; pc correct p-value for multiple comparisons; ns statistically not significant Table 6. Logistic regression model of association of DRB1*03 with sarcoidosis (without patients with EN) evolution to chronicity adjusted for ANXA and BTNL2 Variables in the model: OR 95%CI p-value ANXA-T 0.92 0.41 – 2.08 0.84 BTNL2-A 0.52 0.15 – 1.76 0.29 DRB1*03 0.25 0.08 – 0.78 0.02 OR Odds Ratio; CI - Confidence Interval; ns statistically not significant Table 4. BTNL2 rs2076530 G/A SNP association with sarcoidosis evolution chronicity resolution Allele RR 95%CI p value rs2076530 G 56 (38.9%)a 41 (31.1%)a 1 0.17 rs2076530 A 88 (61.1%)a 91 (68.9%)a 0.85 0.68 – 1.07 Total (2n) 144 132 Genotype GG 14 (19.4%) 6 (9.1%) 0.2 AG 28 (38.9%) 29 (43.9%) 0.41 AA 30 (41.7%) 31 (47.0%) Total (n) 72 66 a allele frequencies; RR - Relative Risk; CI - Confidence Interval; n - number of patients Comparisons of the allele frequencies of BTNL2 variants between chronicity and resolution were performed by X2-test; comparisons of the genotype frequencies were performed by X2-test for trend normalized to the GG homozygote’s (odds ratio set to 1). We define logistic regression models to access the association of the identify HLA alleles and sarcoidosis evolution to chronicity adjusting for the SNPs ANXA and BTNL2 (table 5). In these models only positive DRB1*03 is a statistically significant protective to chronicity after correction for multiple comparisons. No interaction terms were found statistically significant in any logistic regression analysis. CONCLUSIONS In this cohort, when tested possible associations between ANXA 11, BTNL2 and HLA polymorphisms with sarcoidosis evolution only DRB1*03 allele show a statistically significant association with Sarcoidosis evolution.