title: A single-nucleotide polymorphism rs4639966 in 11q23.3 is associated with clinical features of systemic lupus erythematosus in the Chinese population.
abstract: In our previous genome-wide association study (GWAS), we identified an association signal of the single-nucleotide polymorphism (SNP) rs4639966 (p = 1.25 × 10(-16), odds ratio [OR] = 1.29) within 11q23.3. The aim of this study was to investigate its relationship with disease subphenotypes, including renal nephritis, photosensitivity, antinuclear antibody (ANA), age at diagnosis, malar rash, discoid rash, immunological disorder, oral ulcer, hematological disorder, neurological disorder, serositis, arthritis and vasculitis. In this study, we used 4199 cases and 8255 controls from our previous GWAS to explore the association between 11q23.3 with subphenotypes of systemic lupus erythematosus (SLE). Data were analyzed with PLINK 1.07 software. Significant associations were found for the SNP rs4639966 of 11q23.3 with SLE of age at diagnosis <20 years (OR = 1.18, p = 0.0049), malar rash (OR = 1.13, p = 0.01) and vasculitis (OR = 1.17, p = 0.02). The study suggested that 11q23.3 might not only play important roles in the development of SLE, but also contribute to the complex phenotypes of SLE.
authors.affiliation: Key Laboratory of Dermatology (Anhui Medical University), Ministry of Education, China.
authors.forename: Y-J
authors.initials: YJ
authors.lastname: Sheng
authors.forename: J-P
authors.initials: JP
authors.lastname: Gao
authors.forename: H-Y
authors.initials: HY
authors.lastname: Tang
authors.forename: X-F
authors.initials: XF
authors.lastname: Tang
authors.forename: L-D
authors.initials: LD
authors.lastname: Sun
authors.forename: X-Y
authors.initials: XY
authors.lastname: Yin
authors.forename: S
authors.initials: S
authors.lastname: Yang
authors.forename: X-B
authors.initials: XB
authors.lastname: Zuo
authors.forename: Y
authors.initials: Y
authors.lastname: Cui
authors.forename: X-J
authors.initials: XJ
authors.lastname: Zhang
mesh_terms: D000328:Adult; D017668:Age of Onset; D044466:Asian People / Q000235:genetics; D016022:Case-Control Studies; D002681:China; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics*; D005260:Female; D056426:Genetic Loci; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D006801:Humans; D008180:Lupus Erythematosus, Systemic / Q000235:genetics* / Q000503:physiopathology; D008297:Male; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide