RGD Reference Report - Homozygosis for (12) CA repeats in the first intron of the human IFN-gamma gene is significantly associated with the risk of aplastic anaemia in Caucasian population. - Rat Genome Database

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Homozygosis for (12) CA repeats in the first intron of the human IFN-gamma gene is significantly associated with the risk of aplastic anaemia in Caucasian population.

Authors: Dufour, C  Capasso, M  Svahn, J  Marrone, A  Haupt, R  Bacigalupo, A  Giordani, L  Longoni, D  Pillon, M  Pistorio, A  Di Michele, P  Iori, AP  Pongiglione, C  Lanciotti, M  Iolascon, A     
Citation: Dufour C, etal., Br J Haematol. 2004 Sep;126(5):682-5.
RGD ID: 10755688
Pubmed: PMID:15327519   (View Abstract at PubMed)
DOI: DOI:10.1111/j.1365-2141.2004.05102.x   (Journal Full-text)

Interferon-gamma (IFN-gamma) mediates the final damage of the stem cell compartment in Aplastic Anaemia (AA). Normal subjects homozygous for 12 (CA) repeats of polymorphism variable number of dinucleotide (CA) repeat (VNDR) in position 1349 of the IFN-gamma gene (IFNG) were shown to overproduce IFN-gammain vitro. We studied the distribution of polymorphism VNDR 1349 of IFNG in 67 Caucasian AA patients and in normal controls. Genotype (CA)12-12, (homozygosis for allele 2) and the single allele 12 were significantly more frequent (P = 0.005 and 0.004 respectively) in patients versus controls. The polymorphism was equally distributed in AA patients regardless of their response to immunosuppression. Homozygosity for 12 (CA) repeats of polymorphism VNDR 1349 of IFNG is strongly associated with the risk of AA in Caucasian subjects.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
aplastic anemia susceptibilityIAGP 10755688DNA:repeats:intron:RGD 
aplastic anemia susceptibilityISOIFNG (Homo sapiens)10755688; 10755688DNA:repeats:intron:RGD 

Objects Annotated

Genes (Rattus norvegicus)
Ifng  (interferon gamma)

Genes (Mus musculus)
Ifng  (interferon gamma)

Genes (Homo sapiens)
IFNG  (interferon gamma)


Additional Information