RGD Reference Report - Characterization of new polymorphisms in the 5' UTR of the human interleukin-1 receptor type 1 (IL1R1) gene: linkage to type 1 diabetes and correlation to IL-1RI plasma level.

General

Characterization of new polymorphisms in the 5' UTR of the human interleukin-1 receptor type 1 (IL1R1) gene: linkage to type 1 diabetes and correlation to IL-1RI plasma level.
Authors:	Bergholdt, R Larsen, ZM Andersen, NA Johannesen, J Kristiansen, OP Mandrup-Poulsen, T Nerup, J Pociot, F Pociot, F Pociot, F
Citation:	Bergholdt R, etal., Genes Immun. 2000 Dec;1(8):495-500.
RGD ID:	2311106
Pubmed:	PMID:11197691 (View Abstract at PubMed)
DOI:	DOI:10.1038/sj.gene.6363719 (Journal Full-text)
The human interleukin-1 type I receptor (IL-1RI) is the signal transducing receptor for IL-1, a principal proinflammatory cytokine, which is cytotoxic to pancreatic islet beta cells. The IL-1RI gene, IL1R1, maps to chromosome 2q12. We have previously examined part of the IL1R1 promoter region and in the present study we further characterized the promoter region demarcating exon 1B and 1C by sequencing and mutation scanning. New sequence was obtained 1762 bp upstream and 1609 bp downstream the known region. Within this sequence, we identified four frequent single nucleotide polymorphisms (SNPs). PCR-based RFLP assays were established and three of the polymorphisms were typed in a Danish Type 1 (insulin-dependent) diabetes mellitus (T1DM) family collection comprising 103 simplex and 150 sib-pair affected families. Linkage was evaluated by the sib-TDT (transmission disequilibrium test). One of the polymorphisms, defined by a Hinfl RFLP assay, demonstrated linkage to T1DM, P(sTDT) = 0.026. Random transmission was observed to unaffected offspring from heterozygous parents, P = 0.87. No evidence for positive linkage was seen for the other tested polymorphisms, P = 0.14 and P = 0.21, respectively. To evaluate the possible functional significance of the Hinfl polymorphism, we measured circulating IL-1RI plasma level in 30 T1DM patients and in 30 control subjects--10 with each genotype in both groups. Significant differences in plasma levels in relation to genotype--independent of disease status--were found (P = 0.04). In both diabetic and non-diabetic subjects, the wt/wt genotype correlated with the highest IL-1RI plasma level, whereas the plasma levels were lowest for the mt/mt genotype.

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Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
type 1 diabetes mellitus		IAGP		2311106	DNA:SNP (human)	RGD
type 1 diabetes mellitus		ISO	IL1R1 (Homo sapiens)	2311106; 2311106	DNA:SNP (human)	RGD

Objects Annotated

Genes (Rattus norvegicus)

Il1r1 (interleukin 1 receptor type 1)

Genes (Mus musculus)

Il1r1 (interleukin 1 receptor, type I)

Genes (Homo sapiens)

IL1R1 (interleukin 1 receptor type 1)

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Characterization of new polymorphisms in the 5' UTR of the human interleukin-1 receptor type 1 (IL1R1) gene: linkage to type 1 diabetes and correlation to IL-1RI plasma level.