title: Osteopontin alleles are associated with clinical characteristics in systemic lupus erythematosus.
abstract: Variants of the osteopontin (OPN) gene have been associated with systemic lupus erythematosus (SLE) susceptibility and cytokine profiles in SLE patients. It is not known whether these alleles are associated with specific clinical phenotypes in SLE. We studied 252 well-characterized SLE patients from a multiethnic cohort, genotyping the rs11730582, rs28357094, rs6532040, and rs9138 SNPs in the OPN gene. Ancestry informative markers were used to control for genetic ancestry. The SLE-risk allele rs9138C in the 3' UTR region was associated with photosensitivity in lupus patients across all ancestral backgrounds (meta-analysis OR = 3.2, 95% CI = 1.6-6.5, P = 1.0 × 10⁻³). Additionally, the promoter variant rs11730582C demonstrated suggestive evidence for association with two hematologic traits: thrombocytopenia (OR = 2.1, P = 0.023) and hemolytic anemia (OR = 2.6, P = 0.036). These clinical associations with SNPs in the promoter and 3' UTR regions align with previously reported SLE-susceptibility SNPs in OPN and suggest potential roles for these variants in antibody-mediated cytopenias and skin inflammation in SLE.
authors: Section of Rheumatology and Gwen Knapp Center for Lupus and Immunology Research, University of Chicago, 5841 S. Maryland Avenue, MC0930, Chicago, IL 60637, USA.
authors: Tarak
authors: T
authors: Trivedi
authors: Beverly S
authors: BS
authors: Franek
authors: Stephanie L
authors: SL
authors: Green
authors: Silvia N
authors: SN
authors: Kariuki
authors: Marissa
authors: M
authors: Kumabe
authors: Rachel A
authors: RA
authors: Mikolaitis
authors: Meenakshi
authors: M
authors: Jolly
authors: Tammy O
authors: TO
authors: Utset
authors: Timothy B
authors: TB
authors: Niewold
mesh_terms: D020413:3' Untranslated Regions / Q000235:genetics; D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D000743:Anemia, Hemolytic / Q000235:genetics; D015331:Cohort Studies; D005260:Female; D056726:Genetic Association Studies / Q000379:methods*; D020022:Genetic Predisposition to Disease; D006801:Humans; D008180:Lupus Erythematosus, Systemic / Q000235:genetics* / Q000473:pathology*; D008297:Male; D008875:Middle Aged; D053495:Osteopontin / Q000235:genetics*; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D011401:Promoter Regions, Genetic / Q000235:genetics; D013921:Thrombocytopenia / Q000235:genetics; D055815:Young Adult
chemical_list: D020413:3' Untranslated Regions; D053495:Osteopontin