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.
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.
Department of Paediatric Haemato-Oncology, Haematology Unit, G. Gaslini Children's Hospital, Largo G. Gaslini 5, 16147 Genoa, Italy. carlodufour@ospedale-gaslini.ge.it
Carlo
C
Dufour
Mario
M
Capasso
Johanna
J
Svahn
Agnese
A
Marrone
Riccardo
R
Haupt
Andrea
A
Bacigalupo
Lucia
L
Giordani
Daniela
D
Longoni
Marta
M
Pillon
Angela
A
Pistorio
Paola
P
Di Michele
Anna Paola
AP
Iori
Carola
C
Pongiglione
Marina
M
Lanciotti
Achille
A
Iolascon
D000293:Adolescent; D000328:Adult; D000741:Anemia, Aplastic / Q000235:genetics* / Q000276:immunology; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D018900:Dinucleotide Repeats; D005260:Female; D006720:Homozygote; D006801:Humans; D007223:Infant; D007371:Interferon-gamma / Q000235:genetics*; D007438:Introns; D008297:Male; D011110:Polymorphism, Genetic; D012306:Risk; D044465:White People
D007371:Interferon-gamma