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Chunk #72 — WHAT IS KNOWN FROM GWAS STUDIES

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Genetic variants in mRNA untranslated regions.
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variants in UTRs are mainly benign. We then prioritized only those variants unequivocally mapping in UTRs from VEP annotation (table 5). Among the most deleterious variant, rs1128334 (C-score = 16.2) was notable in that it was associated with systemic lupus erythematosus risk and was located in the 3′UTR of the ETS1 gene. ETS1 encodes the transcription factor C-ets-1, involved in a wide range of immune functions, including Th17 cell development and terminal differentiation of B lymphocytes. When evaluating allelic expression in peripheral blood mononuclear cells, the risk allele showed lower ETS1 expression levels.107