Association of IFNGR2 gene polymorphisms with pulmonary tuberculosis among the Vietnamese

被引：28

作者：

Hijikata, Minako ^{[1
]}

Shojima, Junko ^{[1
]}

Matsushita, Ikumi ^{[1
]}

Tokunaga, Katsushi ^{[2
]}

Ohashi, Jun ^{[3
]}

Hang, Nguyen T. L. ^{[4
]}

Horie, Toru ^{[5
]}

Sakurada, Shinsaku ^{[1
]}

Hoang, Nguyen P. ^{[6
]}

Thuong, Pham H. ^{[6
]}

Lien, Luu T. ^{[6
]}

Keicho, Naoto ^{[1
]}

机构：

[1] Natl Ctr Global Hlth & Med, Dept Resp Dis, Res Inst, Shinjuku Ku, Tokyo 1628655, Japan

[2] Univ Tokyo, Dept Human Genet, Grad Sch Med, Tokyo 1130033, Japan

[3] Univ Tsukuba, Dept Publ Hlth Med, Doctoral Program Life Syst Med Sci, Grad Sch Comprehens Human Sci, Ibaraki 3058077, Japan

[4] NCGM BMH Med Collaborat Ctr, Hanoi, Vietnam

[5] JICA Guatemala Chagas Dis Project, Guatemala City, Guatemala

[6] Hanoi Lung Hosp, Hanoi, Vietnam

来源：

HUMAN GENETICS | 2012年 / 131卷 / 05期

关键词：

INTERFERON-GAMMA; LATENT TUBERCULOSIS; SUSCEPTIBILITY; POPULATION; MECHANISMS; RECEPTOR; HOST;

D O I：

10.1007/s00439-011-1112-8

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Interferon-gamma (IFN-gamma) is a key molecule of T helper 1 (Th1)-immune response against tuberculosis (TB), and rare genetic defects of IFN-gamma receptors cause disseminated mycobacterial infection. The aim of the present study was to investigate whether genetic polymorphisms found in the Th1-immune response genes play a role in TB. In our study, DNA samples were collected from two series of cases including 832 patients with new smear-positive TB and 506 unrelated individuals with no history of TB in the general population of Hanoi, Vietnam. Alleles of eight microsatellite markers located around Th1-immune response-related genes and single nucleotide polymorphisms near the promising microsatellites were genotyped. A set of polymorphisms within the interferon gamma receptor 2 gene (IFNGR2) showed a significant association with protection against TB (P = 0.00054). Resistant alleles tend to be less frequently found in younger age at diagnosis (P = 0.011). Luciferase assays revealed high transcriptional activity of the promoter segment in linkage disequilibrium with resistant alleles. We conclude that the polymorphisms of IFNGR2 may confer resistance to the TB development of newly infected individuals. Contribution of the genetic factors to TB appeared to be different depending on age at diagnosis.

引用

页码：675 / 682

页数：8

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