印度内脏利什曼病患者白细胞介素4启动子和可变数目串联重复序列基因座的遗传变异分析。
Analysis of genetic variants in the IL4 promoter and VNTR loci in Indian patients with Visceral Leishmaniasis.
作者信息
Mishra Anshuman, Jha Aditya Nath, van Tong Hoang, Singh Vipin Kumar, Gomes Carlos E M, Singh Lalji, Velavan Thirumalaisamy P, Thangaraj Kumarasamy
机构信息
CSIR - Center for Cellular and Molecular Biology, Hyderabad, India.
CSIR - Center for Cellular and Molecular Biology, Hyderabad, India; Sickle Cell Institute Chattisgarh (SCIC), Raipur, India.
出版信息
Hum Immunol. 2014 Dec;75(12):1177-81. doi: 10.1016/j.humimm.2014.10.007. Epub 2014 Oct 19.
Visceral Leishmaniasis (VL) is the most severest form of Leishmaniasis and resistance to infection is mediated by cellular immune responses. Interleukin 4 (IL-4) orchestrates of Th2 and Th1 immune responses during infections. In this study, we aimed to investigate possible association between three functional IL-4 polymorphisms -590C/T (rs2243250), -34C/T (rs2070874) and 70bp VNTR (rs79071878 in intron3) with VL in an Indian cohort comprising of 197 VL patients and 193 healthy controls. The three investigated IL-4 polymorphisms were in strong linkage disequilibrium. The investigated IL-4 alleles, genotypes and the reconstructed haplotypes were not significantly distributed between the VL patients and healthy controls. Our study signifies no possible association of functional IL-4 polymorphisms with Indian VL and postulate other vital genes involved in the IL-4 pathway may provide genetic clues to elucidate of IL-4 regulation and immune-pathogenesis during VL.
内脏利什曼病（VL）是利什曼病最严重的形式，对感染的抵抗力由细胞免疫反应介导。白细胞介素4（IL-4）在感染期间协调Th2和Th1免疫反应。在本研究中，我们旨在调查印度一个由197例VL患者和193例健康对照组成的队列中，IL-4的三个功能性多态性位点-590C/T（rs2243250）、-34C/T（rs2070874）和70bp VNTR（内含子3中的rs79071878）与VL之间可能存在的关联。所研究的IL-4的三个多态性位点处于强连锁不平衡状态。所研究的IL-4等位基因、基因型和重建单倍型在VL患者和健康对照之间的分布没有显著差异。我们的研究表明功能性IL-4多态性与印度VL之间不存在可能的关联，并推测参与IL-4途径的其他重要基因可能为阐明VL期间IL-4的调节和免疫发病机制提供遗传线索。
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