Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Interleukin 1-Rezeptorantagonist

Das IL1RN-Gen kodiert eine Zytokin der Interleukin 1-Familie, welches mit verschiedenen anderen Zytokinen dieser Familie interagiert und deren Wirkung zu modulieren vermag. Mutationen sind für den autosomal rezessiven Mangel verantwortlich der sich in einer aseptischen Osteomyelitis manifestiert. Weiterhin wird einigen genetischen Varianten ein Einfluss auf Magenkarzinom und diabetischer Mikroangioathie zugeschrieben.

Gentests:

Klinisch Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Interleukin 1-Rezeptorantagonist-Mangel
IL1RN
Magenkrebs-Risiko
IL1RN
Diabetische Mikroangiopathie 4
IL1RN

Referenzen:

1.

Lennard A et al. (1992) Cloning and chromosome mapping of the human interleukin-1 receptor antagonist gene.

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2.

Steinkasserer A et al. (1992) The human IL-1 receptor antagonist gene (IL1RN) maps to chromosome 2q14-q21, in the region of the IL-1 alpha and IL-1 beta loci.

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3.

None (1991) Interleukin 1 receptor antagonist. A new member of the interleukin 1 family.

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4.

Carter DB et al. (1990) Purification, cloning, expression and biological characterization of an interleukin-1 receptor antagonist protein.

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5.

Blakemore AI et al. (1994) Interleukin-1 receptor antagonist gene polymorphism as a disease severity factor in systemic lupus erythematosus.

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6.

Tarlow JK et al. (1994) Severity of alopecia areata is associated with a polymorphism in the interleukin-1 receptor antagonist gene.

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7.

Mansfield JC et al. (1994) Novel genetic association between ulcerative colitis and the anti-inflammatory cytokine interleukin-1 receptor antagonist.

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8.

Patterson D et al. (1993) The human interleukin-1 receptor antagonist (IL1RN) gene is located in the chromosome 2q14 region.

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9.

Dinarello CA et al. (1993) The role of interleukin-1 in disease.

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10.

Tarlow JK et al. (1993) Polymorphism in human IL-1 receptor antagonist gene intron 2 is caused by variable numbers of an 86-bp tandem repeat.

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11.

Blakemore AI et. al. (1996) Interleukin-1 receptor antagonist allele (IL1RN*2) associated with nephropathy in diabetes mellitus.

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12.

Gabay C et al. (1997) Interleukin 1 receptor antagonist (IL-1Ra) is an acute-phase protein.

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13.

Schrijver HM et al. (1999) Association of interleukin-1beta and interleukin-1 receptor antagonist genes with disease severity in MS.

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14.

El-Omar EM et al. (2000) Interleukin-1 polymorphisms associated with increased risk of gastric cancer.

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15.

Langdahl BL et al. (2000) Osteoporotic fractures are associated with an 86-base pair repeat polymorphism in the interleukin-1--receptor antagonist gene but not with polymorphisms in the interleukin-1beta gene.

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16.

Nicklin MJ et al. (2002) A sequence-based map of the nine genes of the human interleukin-1 cluster.

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17.

Dewberry RM et al. (2003) Interleukin-1 receptor antagonist (IL-1RN) genotype modulates the replicative capacity of human endothelial cells.

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18.

Waehre T et al. (2004) Increased expression of interleukin-1 in coronary artery disease with downregulatory effects of HMG-CoA reductase inhibitors.

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19.

Maedler K et al. (2004) Leptin modulates beta cell expression of IL-1 receptor antagonist and release of IL-1beta in human islets.

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20.

Lee SH et. al. () Polymorphisms in interleukin-1 beta and Interleukin-1 receptor antagonist genes are associated with kidney failure in Korean patients with type 2 diabetes mellitus.

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21.

Horai R et al. (2004) TNF-alpha is crucial for the development of autoimmune arthritis in IL-1 receptor antagonist-deficient mice.

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22.

Iizasa H et al. (2005) Exacerbation of granuloma formation in IL-1 receptor antagonist-deficient mice with impaired dendritic cell maturation associated with Th2 cytokine production.

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23.

Bajayo A et al. (2005) Central IL-1 receptor signaling regulates bone growth and mass.

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24.

Strandberg L et al. (2006) Interleukin-1 system gene polymorphisms are associated with fat mass in young men.

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25.

Larsen CM et al. (2007) Interleukin-1-receptor antagonist in type 2 diabetes mellitus.

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26.

Aksentijevich I et. al. (2009) An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist.

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27.

Reddy S et. al. (2009) An autoinflammatory disease due to homozygous deletion of the IL1RN locus.

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28.
Update: 8. Mai 2019