期刊
INFECTION GENETICS AND EVOLUTION
卷 9, 期 4, 页码 617-625出版社
ELSEVIER
DOI: 10.1016/j.meegid.2009.03.006
关键词
Lepromatous leprosy susceptibility, L-lep, DEFB1; hBD-1, human beta defensin, NF-kappa B, SNP; Innate immunity, Mycobacterium leprae, defensins
资金
- Consejo Nacional de Ciencia y Tecnologia-Gobierno del Estado de Sinaloa [SIN-2005-C01-02, FOMIX-CCINACYT]
- Instituto Mexicano del Seguro Social [99145989]
- National Council of Science and Technology [176803]
- Wellcome Trust Sanger Institute Advanced Course
Leprosy is an infectious disease caused by Mycobacterium leprae. The peptide human beta-defensin 1 is an antimicrobial effector of innate epithelia] immunity, A study was done on the association of three single nucleotide polymorphisms (SNPs) in the beta-defensin I gene (DEFB1) - 668 C/G (-44 C/G or rs1800972; in 5' UTR), 692 A/G (-20 A/G or rs11362; in 5' UTR) and A1836G (rs1800971; in 3' UTR) - with leprosy susceptibility per se and clinical leprosy variants. The SNPs were genotyped by real-time polymerase chain reaction (rt-PCR) and PCR-restriction fragment length polymorphisms. Subjects were of Mexican mestizo ethnicity from Sinaloa state, Mexico. Analysis was done on borderline leprosy, lepromatous leprosy (L-lep) and indeterminate leprosy subgroups compared with healthy controls. Results: The genotypes associated with L-lep and no other leprosy subgroup after Bonferroni correction were those that contain 668C in a dominant model (OR = 3.06, 95% CI 1.47-6.4, p = 0.024). Estimated haplotype CGA is over-represented in L-lep (p = 0.009; OR = 2.25, 1.23-4.03). Five NF-kappa B1 putative binding sites (NPBSs) were identified with JASPAR software in non-coding strand spanning the 51 UTR and intron I of DEFB1, including one which is altered when SNP 668C is present. SNP 668C probably abrogates NF-kappa B-dependent DEFB1 upregulation leading to L-lep variant. (C) 2009 Published by Elsevier B.V.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据