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

Carlo Dufour, Mario Capasso, Johanna Svahn, Agnese Marrone, Riccardo Haupt, Andrea Bacigalupo, Lucia Giordani, Daniela Longoni, Marta Pillon, Angela Pistorio, Paola Di Michele, Anna Paola Iori, Carola Pongiglione, Marina Lanciotti, Achille Iolascon

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
Pages (from-to)682-685
Number of pages4
JournalBritish Journal of Haematology
Volume126
Issue number5
DOIs
Publication statusPublished - Sep 2004

Keywords

  • Aplastic anaemia
  • Caucasian population
  • Interferon-γ
  • Polymorphisms

ASJC Scopus subject areas

  • Hematology

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