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TLR2 和 TLR4 基因单核苷酸多态性与中国汉族人群真菌性角膜炎的相关性。

Association of TLR2 and TLR4 gene single nucleotide polymorphisms with Fungal Keratitis in Chinese Han population.

机构信息

Department of Ophthalmology, the Affiliated Hospital of Medical College, Qingdao University , Qingdao, Shandong Province , PR China and.

出版信息

Curr Eye Res. 2014 Jan;39(1):47-52. doi: 10.3109/02713683.2013.827212. Epub 2013 Sep 27.

Abstract

PURPOSE

Toll-like receptor 2 (TLR2) and Toll-like receptor 4 (TLR4) play a crucial role in the primary defense against fungal pathogens, and since genetic variation in genes may regulate the response. This study aimed to test whether variants in the TLR4 gene are associated with fungal keratitis (FK) of Chinese Han population.

MATERIALS AND METHODS

Two-hundred sixty-nine subjects (109 cases and 160 matched controls) in a Han Chinese population were genotyped. Seven single nucleotide polymorphisms (SNPs) which located, respectively, in the TLR2 and TLR4 genes were selected and their associations with FK risk factors were assessed.

RESULTS

Allele A of TLR4 rs10983755 was found significantly higher in the group of FK patients, being detected in 32.11% of the FK patients alleles and in 22.19% of the healthy control alleles (p = 0.01).Those AA/AG genotypes carrying the allele A of rs10983755 had a risk effect on the etiology of FK, and the odds ratio for the FK patients versus controls was 2.075 (OR = 2.075, 95%CI = 1.264-3.407). The Ht3 haplotype, which carried the A allele of TLR4 rs10983755, was associated with the significantly increased risk of FK (OR = 1.786, 95%CI = 1.207-2.642). While, the Ht2 haplotype, which carried the wild G allele of TLR4 rs10983755, was a protective haplotype (OR = 0.488, 95%CI = 0.333-0.715). The genotype and allele frequency of TLR2 showed no differences between the two groups (p > 0.05).

CONCLUSIONS

The rs10983755, located in the 5'-untranslated region (UTR) of TLR4, was most strongly associated with FK of Chinese Han population (p < 0.05). The analysis of TLR2 gene polymorphisms showed no significant association upon FK susceptibilities of Chinese Han population.

摘要

目的

Toll 样受体 2(TLR2)和 Toll 样受体 4(TLR4)在抵御真菌病原体的初级防御中发挥着至关重要的作用,而基因中的遗传变异可能会调节这种反应。本研究旨在检测 TLR4 基因中的变异是否与汉族人群的真菌性角膜炎(FK)有关。

材料与方法

在汉族人群中,共对 269 名受试者(109 例病例和 160 例匹配对照)进行了基因分型。选择分别位于 TLR2 和 TLR4 基因中的 7 个单核苷酸多态性(SNP),并评估其与 FK 危险因素的关联。

结果

TLR4 rs10983755 的等位基因 A 在 FK 患者组中明显升高,在 32.11%的 FK 患者等位基因和 22.19%的健康对照等位基因中检测到(p=0.01)。携带 rs10983755 等位基因 A 的 AA/AG 基因型对 FK 的病因具有风险效应,FK 患者与对照组的比值比为 2.075(OR=2.075,95%CI=1.264-3.407)。携带 TLR4 rs10983755 等位基因 A 的 Ht3 单倍型与 FK 的显著增加风险相关(OR=1.786,95%CI=1.207-2.642)。然而,携带 TLR4 rs10983755 野生 G 等位基因的 Ht2 单倍型是一种保护性单倍型(OR=0.488,95%CI=0.333-0.715)。TLR2 的基因型和等位基因频率在两组之间无差异(p>0.05)。

结论

位于 TLR4 5'-非翻译区(UTR)的 rs10983755 与汉族人群的 FK 相关性最强(p<0.05)。TLR2 基因多态性分析显示,汉族人群 FK 易感性无显著相关性。

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