title: Two missense variants in UHRF1BP1 are independently associated with systemic lupus erythematosus in Hong Kong Chinese.
abstract: UHRF1BP1 encodes a highly conserved protein with unknown function. Previously, a coding variant in this gene was found to be associated with systemic lupus erythematosus (SLE) in populations of European ancestry (rs11755393, R454Q, P=2.22 x 10⁻⁸, odds ratio=1.17). In this study, by a combination of genome-wide study and replication involving a total of 1230 patients and 3144 controls, we confirmed the association of this coding variant to SLE in Hong Kong Chinese. We also identified another coding variant in this gene that independently contributes to SLE susceptibility (rs13205210, M1098T, P=4.44 x 10⁻⁹, odds ratio=1.49). Cross-population confirmation establishes the involvement of this locus in SLE and indicates that distinct alleles are contributing to disease susceptibility.
authors.affiliation: Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong, China.
authors.forename: Y
authors.initials: Y
authors.lastname: Zhang
authors.forename: W
authors.initials: W
authors.lastname: Yang
authors.forename: C C
authors.initials: CC
authors.lastname: Mok
authors.forename: T M
authors.initials: TM
authors.lastname: Chan
authors.forename: R W S
authors.initials: RW
authors.lastname: Wong
authors.forename: M Y
authors.initials: MY
authors.lastname: Mok
authors.forename: K W
authors.initials: KW
authors.lastname: Lee
authors.forename: S N
authors.initials: SN
authors.lastname: Wong
authors.forename: A M H
authors.initials: AM
authors.lastname: Leung
authors.forename: T L
authors.initials: TL
authors.lastname: Lee
authors.forename: M H K
authors.initials: MH
authors.lastname: Ho
authors.forename: P P W
authors.initials: PP
authors.lastname: Lee
authors.forename: W H S
authors.initials: WH
authors.lastname: Wong
authors.forename: J
authors.initials: J
authors.lastname: Yang
authors.forename: J
authors.initials: J
authors.lastname: Zhang
authors.forename: C-M
authors.initials: CM
authors.lastname: Wong
authors.forename: I O L
authors.initials: IO
authors.lastname: Ng
authors.forename: M-M
authors.initials: MM
authors.lastname: Garcia-Barceló
authors.forename: S S
authors.initials: SS
authors.lastname: Cherny
authors.forename: P K-H
authors.initials: PK
authors.lastname: Tam
authors.forename: P C
authors.initials: PC
authors.lastname: Sham
authors.forename: C S
authors.initials: CS
authors.lastname: Lau
authors.forename: Y L
authors.initials: YL
authors.lastname: Lau
mesh_terms: D000483:Alleles; D000595:Amino Acid Sequence; D044466:Asian People / Q000235:genetics*; D022762:CCAAT-Enhancer-Binding Proteins / Q000235:genetics*; D005787:Gene Frequency; D023061:Gene Order; D020022:Genetic Predisposition to Disease / Q000235:genetics; D055106:Genome-Wide Association Study; D006723:Hong Kong; D006801:Humans; D015810:Linkage Disequilibrium; D008180:Lupus Erythematosus, Systemic / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D044767:Ubiquitin-Protein Ligases
chemical_list: D022762:CCAAT-Enhancer-Binding Proteins; C406364:UHRF1 protein, human; D044767:Ubiquitin-Protein Ligases