title: Haplotype analysis of tumour necrosis factor receptor genes in 1p36: no evidence for association with systemic lupus erythematosus.
abstract: Systemic lupus erythematosus (SLE) is a systemic autoimmune disease with partially understood aetiology. The 1p36 region has been previously linked with SLE and harbours tumour necrosis factor receptor (TNFR) genes. Functional and genetic data implicate their gene products in SLE and other autoimmune diseases. In all, single-nucleotide polymorphisms (SNPs) across TNFRSF14 (HVEM), and 43 SNPs across the TNFRSF8 (CD30) and TNFRSF1B (CD120B) locus were investigated for linkage disequilibrium (LD) and haplotype analysis in European-Caucasians. Strong LD was observed across HVEM and CD120B, and little LD and recombination across CD30. We also examined the association of SNPs and haplotypes in HVEM, CD30 and CD120B with SLE in European-Caucasians. There was no evidence of association for these genes in 456 European-Caucasian families with SLE from UK. Haplotype tagging SNPs are made known across areas of strong LD, which will facilitate analysis for susceptibility in other diseases.
authors.affiliation: Rheumatology Section, Faculty of Medicine, Imperial College, Hammersmith Hospital, London, UK.
authors.forename: Sapna
authors.initials: S
authors.lastname: Chadha
authors.forename: Katie
authors.initials: K
authors.lastname: Miller
authors.forename: Lisa
authors.initials: L
authors.lastname: Farwell
authors.forename: Steven
authors.initials: S
authors.lastname: Sacks
authors.forename: Mark J
authors.initials: MJ
authors.lastname: Daly
authors.forename: John D
authors.initials: JD
authors.lastname: Rioux
authors.forename: Timothy J
authors.initials: TJ
authors.lastname: Vyse
mesh_terms: D002878:Chromosomes, Human, Pair 1; D015331:Cohort Studies; D006239:Haplotypes / Q000235:genetics*; D006801:Humans; D017730:Ki-1 Antigen / Q000235:genetics; D015810:Linkage Disequilibrium; D008180:Lupus Erythematosus, Systemic / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D018124:Receptors, Tumor Necrosis Factor / Q000235:genetics*; D053240:Receptors, Tumor Necrosis Factor, Member 14; D047889:Receptors, Tumor Necrosis Factor, Type II / Q000235:genetics; D011991:Receptors, Virus / Q000235:genetics; D006113:United Kingdom; D044465:White People / Q000235:genetics
chemical_list: D017730:Ki-1 Antigen; D018124:Receptors, Tumor Necrosis Factor; D053240:Receptors, Tumor Necrosis Factor, Member 14; D047889:Receptors, Tumor Necrosis Factor, Type II; D011991:Receptors, Virus; C506028:TNFRSF14 protein, human