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

被引：52

作者：

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

机构：

[1] G Gaslini Childrens Hosp, Dept Paediat Haematooncol, Haematol Unit, I-16147 Genoa, Italy

[2] Univ Naples Federico II, Dept Biochem & Med Biotechnol, Naples, Italy

[3] CEINGE Adv Biotechnol, Naples, Italy

[4] G Gaslini Childrens Hosp, Sci Directorate, Epidemiol & Biostat Sect, Genoa, Italy

[5] Osped San Martino Genova, Dept Haematol, Genoa, Italy

[6] Univ Milan Bicocca, S Gerardo Hosp Monza, Dept Paediat, Milan, Italy

[7] Univ Padua, Dept Paediat, Haematol & Oncol Clin, I-35100 Padua, Italy

[8] Univ Roma La Sapienza, Dept Cellular Biotechnol & Haematol, Rome, Italy

来源：

BRITISH JOURNAL OF HAEMATOLOGY | 2004年 / 126卷 / 05期

关键词：

interferon-g polymorphisms; aplastic anaemia; Caucasian population;

D O I：

10.1111/j.1365-2141.2004.05102.x

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页码：682 / 685

页数：4

共 10 条

[1]

AWARD M, 1999, HUMAN IMMUNOLOGY, V60, P343

[2] Antilymphocyte globulin, cyclosporine, prednisolone, and granulocyte colony-stimulating factor for severe aplastic anemia: an update of the GITMO/EBMT study on 100 patients [J].