Premium
Homozygosis for (12) CA repeats in the first intron of the human IFN‐ γ gene is significantly associated with the risk of aplastic anaemia in Caucasian population
Author(s) -
Dufour Carlo,
Capasso Mario,
Svahn Johanna,
Marrone Agnese,
Haupt Riccardo,
Bacigalupo Andrea,
Giordani Lucia,
Longoni Daniela,
Pillon Marta,
Pistorio Angela,
Michele Paola Di,
Iori Anna Paola,
Pongiglione Carola,
Lanciotti Marina,
Iolascon Achille
Publication year - 2004
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.2004.05102.x
Subject(s) - genotype , allele , biology , polymorphism (computer science) , immunology , gene , immunosuppression , genetics , microbiology and biotechnology
Summary Interferon‐ γ (IFN‐ γ ) 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‐ γ gene ( IFNG ) were shown to overproduce IFN‐ γ in 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.