Session Type: ACR Poster Session B
Session Time: 9:00AM-11:00AM
Background/Purpose: Systemic lupus erythematosus (SLE) is a complex autoimmune disease with marked disparities in prevalence and disease characteristics among different populations. Those disparities are believed to result from both genetic and environmental factors. The purpose of this study is to identify genetic susceptibility alleles for SLE in the Dominican Republic (DR) population which has a high prevalence for SLE.
Methods: SLE patients (n = 208) who fulfilled the 1997 revised American College of Rheumatology criteria for the classification of SLE and age/sex-matched healthy controls (n = 205) from the DR were recruited for this case-control study. Genomic DNA was prepared from whole blood and subjected to Sequenom MassARRAY iPLEX genotyping analyses for 42 selected single nucleotide polymorphisms (SNPs). The allele frequencies in SLE patients and healthy controls were compared using Pearson Chi-Square or Fisher’s Exact test.
Results: Among the 19 human leukocyte antigen (HLA) gene alleles analyzed, HLA-DQA1 (rs 9271366) shows the strongest association with SLE (OR = 5.48, p = 0.0001, Pearson Chi-Square test). SNPs at HLA-DRA (rs6903608, rs9268880, and rs9268979) and HLA-DRB2 (rs9271055) also contribute to SLE susceptibility in the DR population (p = 0.0086, OR = 2.09; p = 0.0061, OR = 2.21; p = 0.0012, OR = 2.86; and p = 0.0059, OR = 3.27, respectively). Among the 23 non-HLA gene alleles analyzed, SNP1858C/T (rs2476601) in the tyrosine phosphatase, non-receptor type 22 (PTPN22) gene shows the highest odds ratio for SLE (OR = 6.54, p = 0.038, Pearson Chi-Square test). SNPs in the STAT4 gene (rs11889341), PMS2 gene (rs1860460), and TNFSF4 gene (rs2205960) also contribute to SLE susceptibility in the DR population (p = 0.025, OR = 2.2; p = 0.032, OR = 1.7; and p = 0.035, OR = 2.39, respectively). However, SNPs in the IRF5 (rs12537284 and rs2070197), BLK (rs13277113), and TNFAIP3 (rs 5029939) genes that have been frequently identified as SLE susceptibility alleles in other populations do not show association with SLE in the DR population (p = 0.824, 0.4, 0.468, and 0.896, respectively).
Conclusion: SNPs in the HLA-DQA1, HLA-DRA, and HLA-DRB2 alleles and non-HLA genes PTPN22, STAT4, PMS2, and TNFSF4 contribute to SLE susceptibility in the DR population. However, SNPs in the IRF5, BLK, and TNFAIP3 genes may not contribute to SLE susceptibility in the DR population. This is the first study focusing on SLE patients from the DR who may have unique genetic risk factors for the development of SLE.
To cite this abstract in AMA style:Loyo E, Liu Z, Tineo C, Gottschalk P, Paulino G, Yu Y, Yue Y, Hearth-Holmes M, Zhang Z, Su K. Genetic Susceptibility Loci for Systemic Lupus Erythematosus in the Dominican Republic Population [abstract]. Arthritis Rheumatol. 2016; 68 (suppl 10). https://acrabstracts.org/abstract/genetic-susceptibility-loci-for-systemic-lupus-erythematosus-in-the-dominican-republic-population/. Accessed November 19, 2019.
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ACR Meeting Abstracts - https://acrabstracts.org/abstract/genetic-susceptibility-loci-for-systemic-lupus-erythematosus-in-the-dominican-republic-population/