Polymorphisms of the interleukin-6 gene are associated with bone mineral density

High-resolution analysis of IL-6 minisatellite polymorphism in Sardinian multiple sclerosis: effect on course and onset of disease

“…This revealed that the sizes and number of IL-6 minisatellite alleles were identical in both populations, although Sardinian IL-6 allele frequencies deviated strongly from the Swedish ones, as expected (P Ͻ 0.0001). 12 Most remarkably, the F (Murray et al 10 ) or B4 (Bowcock et al 13 ) amplicons, which were in previous studies considered to represent a single allele, appeared to be composed actually of three different alleles (A1, 608 bp; A2, 615 bp and A3, 618 bp). The pooled frequencies of these three alleles in the Swedish population appeared to match well with the frequency of the F amplicon in the Scottish population, and that of the B4 amplicon in a non-specified Caucasian population (0.735, 0.75 and 0.84, respectively).…”

“…Separation of amplification products by means of denaturing PAGE on an automated DNA sequencer facilitated accurate sizing, and revealed the existence of more alleles than previously assumed on the basis of lowresolution non-denaturing electrophoresis (Table 1). [9][10][11] In order to ensure that this effect was not due to the specific phylogenetic structure of the Sardinian population, 12 we typed also a representative sample of a continentalEuropean Caucasian (Swedish) population. This revealed that the sizes and number of IL-6 minisatellite alleles were identical in both populations, although Sardinian IL-6 allele frequencies deviated strongly from the Swedish ones, as expected (P Ͻ 0.0001).…”

“…The pooled frequencies of these three alleles in the Swedish population appeared to match well with the frequency of the F amplicon in the Scottish population, and that of the B4 amplicon in a non-specified Caucasian population (0.735, 0.75 and 0.84, respectively). 10,13 Clinical and demographic characteristics of Sardinian MS patients have been published before. 14 All patients were ascertained to have clinically definite MS. 15 Trans- = 63.13 (P Ͻ 0.0001; 6 df) for comparison of Swedish and Sardinian IL-6 minisatellite allele frequencies.…”

“…16 Taking into account the different primers used for amplification of the IL-6 minisatellite in the present and former study, careful examination shows that the 828 bp allele 16 corresponds to the 650 bp A5 allele of the present study. In a study on German Caucasian patients with Alzheimer's disease (AD), IL-6 minisatellite allele A5 (allele C according to the classification of Murray et al 10 ) was found to be associated with delayed onset of disease and reduced disease risk. 11 We demonstrate here that the same allele is associated with a benign course of MS.…”

IL-6 promoter polymorphisms in rheumatoid arthritis

“…and, consistent with our data, no association was observed. 16,17 Other authors have described an association of 3Ј flanking region IL-6 polymorphisms with peak bone mass 18 and more recently, SLE patients have been shown to demonstrate greater variability in the IL-6 3Ј polymorphic region than healthy controls, 19 with SLEassociated alleles contributing to altered IL-6 expression. 20 A novel SNP located at position −573 has been recently described in African-Americans.…”