title: Association of homozygous deletion of the Humhv3005 and the VH3-30.3 genes with renal involvement in systemic lupus erythematosus.
abstract: To investigate whether deletion of the Humhv3005 and the homologous VH3-30.3 (both share an identical amino acid sequence) genes is associated with susceptibility and/or certain clinical manifestations of systemic lupus erythematosus (SLE), DNA from 108 Korean SLE patients and 102 healthy subjects were analysed for the status of hv3005 gene by polymerase chain reaction-enzyme-linked immunosorbent assay. This method consists of amplification of selected germline VH3 genes with biotinylated primers, efficient capture of amplicons onto streptavidin-coated wells, and quantitative typing of bound VH3 gene with diagnostic oligonucleotides. We found that deletion of the hv3005 gene (including VH3-30.3) was more frequent in SLE patients than in healthy controls (26.9 versus 11.8%, P = 0.006, odds ratio 2.75). When clinical features were examined, patients with hv3005 deletion have a higher frequency of lupus nephritis (LN) (75.9 versus 44.3% for those without, P = 0.004), and higher activity index [median (range), 6 (2-14) versus 4 (1-16) for those without, P = 0.044] when biopsy-proven LN was studied. Collectively, our data suggest that deletion of the hv3005 and the 3-30.3 genes may predispose individual SLE patients to the development of LN.
authors.affiliation: Division of Rheumatology, Department of Internal Medicine, St Mary's Hospital, Research Institute of Immunobiology, Catholic Research Institutes of Medical Sciences, School of Medicine, The Catholic University of Korea, Seoul, Korea.
authors.forename: Mi-La
authors.initials: ML
authors.lastname: Cho
authors.forename: Pojen P
authors.initials: PP
authors.lastname: Chen
authors.forename: Young-Il
authors.initials: YI
authors.lastname: Seo
authors.forename: Sue-Yun
authors.initials: SY
authors.lastname: Hwang
authors.forename: Wan-Uk
authors.initials: WU
authors.lastname: Kim
authors.forename: Do-June
authors.initials: DJ
authors.lastname: Min
authors.forename: Sung-Hwan
authors.initials: SH
authors.lastname: Park
authors.forename: Chul-Soo
authors.initials: CS
authors.lastname: Cho
mesh_terms: D000293:Adolescent; D000328:Adult; D000595:Amino Acid Sequence; D001483:Base Sequence; D054637:Dual-Specificity Phosphatases; D004797:Enzyme-Linked Immunosorbent Assay; D005260:Female; D017353:Gene Deletion; D006720:Homozygote; D006801:Humans; D007668:Kidney / Q000473:pathology; D008180:Lupus Erythematosus, Systemic / Q000150:complications / Q000235:genetics*; D008181:Lupus Nephritis / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D017027:Protein Tyrosine Phosphatases / Q000235:genetics*
chemical_list: C442320:DUSP5 protein, human; D054637:Dual-Specificity Phosphatases; D017027:Protein Tyrosine Phosphatases