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先天免疫基因多态性与淋巴丝虫病易感性

Polymorphisms of innate immunity genes and susceptibility to lymphatic filariasis.

作者信息

Hise A G, Hazlett F E, Bockarie M J, Zimmerman P A, Tisch D J, Kazura J W

机构信息

Center for Global Health and Diseases, Case Western Reserve University, Cleveland, OH 44106, USA.

出版信息

Genes Immun. 2003 Oct;4(7):524-7. doi: 10.1038/sj.gene.6364015.

Abstract

We examined 906 residents of an area of Papua New Guinea where bancroftian filariasis is endemic for genetic polymorphisms in three innate immunity genes suspected of contributing to susceptibility to infection and lymphatic pathology. Active infection was confirmed by the presence of blood-borne microfilariae and circulating filarial antigen in plasma. Disease was ascertained by physical examination for the presence of overt lymphedema (severe swelling of an arm or leg) or hydrocele. There was no association of infection status, lymphedema of an extremity, or hydrocele with chitotriosidase genotype (CHIT1). Polymorphisms of toll-like receptor-2 and toll-like receptor-4 genes (TLR4 A896G; TLR2 T2178A, G2258A) were not detected (N=200-625 individuals genotyped) except for two individuals heterozygous for a TLR2 mutation (C2029 T). These results indicate that a CHIT1 genotype associated previously with susceptibility to filariasis in residents of southern India and TLR2 and TLR4 polymorphisms do not correlate with infection status or disease phenotype in this Melanesian population.

摘要

我们对巴布亚新几内亚一个班氏丝虫病流行地区的906名居民进行了研究,检测了三个被怀疑与感染易感性和淋巴病理相关的先天免疫基因的遗传多态性。通过血浆中血源性微丝蚴和循环丝虫抗原的存在来确认活动性感染。通过体格检查确定是否存在明显的淋巴水肿(手臂或腿部严重肿胀)或鞘膜积液来判断疾病情况。感染状态、肢体淋巴水肿或鞘膜积液与几丁质酶基因型(CHIT1)之间没有关联。除了两名TLR2突变(C2029T)杂合个体外,未检测到Toll样受体2和Toll样受体4基因的多态性(TLR4 A896G;TLR2 T2178A、G2258A)(基因分型个体数N = 200 - 625)。这些结果表明,先前在印度南部居民中发现的与丝虫病易感性相关的CHIT1基因型,以及TLR2和TLR4多态性与该美拉尼西亚人群的感染状态或疾病表型无关。

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