Cytokine gene polymorphism in human disease: on-line databases, Supplement 1

Bidwell, Jeff L.; Keen, Leigh; Gallagher, Grant; Kimberly, Robert P.; Huizinga, T.; McDermott, Michael F.; Oksenberg, Jorge R.; McNicholl, Janet M.; Pociot, Flemming; Hardt, Cornelia; D’Alfonso, Sandra

doi:10.1038/sj.gene.6363733

Cited by 244 publications

(122 citation statements)

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“…Direct sequencing of the heteroduplex samples and one homoduplex as a reference for each fragment led to the identification of 16 sequence variations (Table 1). Most of them had been previously, identified in other studies 14,[17][18][19][20][21] with the exception of four SNPs located at positions À1270, +3814, +4123 and +4230 (Table 1).…”

Section: Search Of New Snpsmentioning

confidence: 88%

“…This distance does not exclude the IL10 gene since peaks of linkage in complex diseases only define a confidence interval for the location of a gene and, therefore, susceptibility genes may map near peaks of linkage rather than directly under them. 13 Different polymorphisms were identified both in the 5' flanking region [14][15][16][17][18][19][20] and, more recently, in the transcribed region 21 of the IL10 gene including two microsatellites at position À4000 (IL10 15 ) and À1100 (IL10 16 ). One of the two microsatellites, IL10.G, has been shown to be associated to SLE by three independent studies, including ours [22][23][24] although this was not supported by a fourth work.…”

Section: Introductionmentioning

confidence: 99%

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Association tests with systemic lupus erythematosus (SLE) of IL10 markers indicate a direct involvement of a CA repeat in the 5′ regulatory region

et al. 2002

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Many lines of evidence suggest that IL10 is a strong candidate gene for systemic lupus erythematosus (SLE) susceptibility. In our previously reported study an allele (IL10.G-140bp) of the microsatellite IL10.G located at position À1100 was significantly increased in Italian SLE patients in comparison with controls. Starting from this observation, we tested if sequence variations in the vicinity of IL10.G were more strongly associated with SLE. We performed a comprehensive association study including 26 SNPs (of which four were newly identified in the present study by DHPLC analysis) spanning 8.5 Kb of the 5 0 flanking and the transcribed region of the IL10 gene. The association study was performed by the DNA pool method on an extended panel of Italian patients (205) and controls (631). Haplotypic associations were studied by individual typing of seven selected markers surrounding IL10.G. Gene, genotype and haplotype frequencies were not significantly different in patients and controls. Thus the IL10.G microsatellite remains to date the only IL10 marker associated with SLE in our population. A meta-analysis of all published results indicates a possible direct role of the IL10.G repeat number in SLE susceptibiliy.

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Section: Search Of New Snpsmentioning

confidence: 88%

Section: Introductionmentioning

confidence: 99%

Association tests with systemic lupus erythematosus (SLE) of IL10 markers indicate a direct involvement of a CA repeat in the 5′ regulatory region

et al. 2002

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“…The most studied class IV genes are tumour necrosis factor and lymphotoxin (TNFA and TNFB). 78,[80][81][82] The strongest evidence for susceptibility genes in the class I region comes from recent systematic assessment of microsatellite markers spanning this region. [83][84][85][86][87][88][89] Non-HLA encoded susceptibility to T1D HLA-encoded T1D susceptibility may account for less than 50% of the inherited disease risk and thus, there is a substantial role for non-HLA encoded susceptibility.…”

Section: Hla-encoded Susceptibility To T1dmentioning

confidence: 99%

Genetics of type 1 diabetes mellitus

2002

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“…The IL1A, IL1B and IL1RN genes have been extensively examined for polymorphic nucleotide residues: the literature on these polymorphisms, their effect on gene expression, and their influence on human diseases has been reviewed. [23][24][25] The IL1R1 gene ( Figure 1) contains 14 exons and has three distinct promoters, generating three alternative transcripts with differing 5 0 -untranslated regions, derived from exons 1A, 1B or 1C. 26 Since the levels of transcription of certain cytokine genes are influenced by polymorphic nucleotides in the promoter sequences, 23 and IL-1RI is expressed on a wide variety of cells subjected to different evolutionary pressures (including those from microorganisms), we predicted that the promoter region of IL1RI should be highly polymorphic.…”

Section: Introductionmentioning

confidence: 99%

Extended haplotypes and linkage disequilibrium in the IL1R1–IL1A–IL1B–IL1RN gene cluster: association with knee osteoarthritis

et al. 2004

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The interleukin-1 gene cluster is a key regulator in a number of chronic disease processes. We explored the linkage between nine polymorphic loci in the IL1R1 promoter, eight in the IL1A-IL1B-IL1RN gene complex, and their association with osteoarthritis (OA), a common complex disease associated with low-level inflammation. Using 195 healthy controls, we identified eight novel polymorphisms in the IL1R1 exon 1A region. We found limited LD between IL1R1 and the IL1A-IL1B-IL1RN cluster, although LD within these two individual groups was high. To test association with knee OA, we genotyped 141 patients from Bristol (UK) at the 17 loci. IL1R1 promoter haplotypes showed no association with disease. However, within the IL1A-IL1B-IL1RN complex, we identified a common haplotype conferring a four-fold risk of OA (P ¼ 0.00043; P c ¼ 0.0043) and one IL1B-IL1RN haplotype conferring a four-fold reduced risk (P ¼ 0.0036; P c ¼ 0.029). To replicate these associations, we subsequently examined 163 knee OA patients from London. Here, the effects of the haplotypes were confirmed: the risk IL1A-IL1B-IL1RN haplotype conferred a two-fold risk of OA (P ¼ 0.02), and the protective IL1B-IL1RN haplotype conferred a fivefold reduced risk of OA (P ¼ 0.0000008). These results may help to explain the genome-wide scan linkage data and functional observations concerning association between IL-1 and OA.

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Cytokine gene polymorphism in human disease: on-line databases, Supplement 1

Cited by 244 publications

References 1 publication

Association tests with systemic lupus erythematosus (SLE) of IL10 markers indicate a direct involvement of a CA repeat in the 5′ regulatory region

Association tests with systemic lupus erythematosus (SLE) of IL10 markers indicate a direct involvement of a CA repeat in the 5′ regulatory region

Genetics of type 1 diabetes mellitus

Extended haplotypes and linkage disequilibrium in the IL1R1–IL1A–IL1B–IL1RN gene cluster: association with knee osteoarthritis

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