Tumor necrosis factor receptor II (TNFRII) exon 6 polymorphism in systemic lupus erythematosus

Abstract

Systemic lupus erythematosus (SLE) is a complex autoimmune disease that exhibits extensive clinical heterogeneity. Several studies have suggested a role for tumor necrosis factor alpha (TNFalpha) in SLE and recently, the locus encompassing the TNF receptor II (TNFRII), which is a mediator of TNF effect, was amongst the candidate loci suggested by genetic linkage studies of multi-case SLE families. Komata et al. reported an association between a polymorphism at position 196 (R allele) of TNFR II and SLE in Japanese patients. We have typed SLE patients from two different ethnic populations, Spanish and UK Caucasoids, for this polymorphism using a polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP)-based technique. No significant differences in allele or genotype frequencies were found between cases and matched controls in either population. The TNFRII 196R allele does not appear to be associated with SLE susceptibility in either Spanish or UK populations.

Tumour necrosis factor family genes in a phenotype of COPD associated with emphysema

“…The soluble form of TNFR1 has been shown to correlate with leptin plasma concentration, in turn related to lower fat mass, in emphysema, but not in chronic bronchitis [39]. The TNFR2 exon 6 polymorphism investigated in the present paper was previously found to be associated with human narcolepsy in the Japanese [40], and with systemic lupus erythematosus (SLE) [41] and rheumatoid arthritis in British patients [42], but not with SLE in either Spanish or British populations [28] or idiopathic pulmonary fibrosis [43] in British patients.…”

“…This polymorphism results in an amino acid substitution (MetRArg). The 242 base pair PCR product is uncleaved in the 196 G allele (also called the R allele), and cleaved into two fragments of 133 and 109 bp in the 196 T allele (also called the M allele) [28] (fig. 1).…”

TNF-alpha 863C > A promoter and TNFRII 196T > G exonic variationsmay be risk factors for juvenile idiopathic arthritis

“…This study group found that either TNFRII 196 G/G genotype or G allele was a risk factor for RA in a Caucasian population (23). Al-Ansari et al showed no correlation between the polymorphism and SLE (24).…”

Il-4Rα, TNF-α,TNF-α Receptor, and CD4 Enhancer Genes Polymorphisms in Rheumatoid Arthritis Saudi Female Patients

“…The subjects were genotyped for TNFRII exon 6 polymorphism by PCR-RFLP as described previously [37]. The region surrounding the polymorphism was amplified with following forward primers 5'-ACTCTCCTATCCTGCCTGCT-3' and reverse primer 5'-TTCTGGAGTTGGCTGCGTGT-3'.…”