TLR1 polymorphism rs4833095 as a risk factor for IgA nephropathy in a Chinese Han population: A case-control study.
TLR1 polymorphism rs4833095 as a risk factor for IgA nephropathy in a Chinese Han population: A case-control study.
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TLR1多态性rs4833095作为中国汉族人群IgA肾病的危险因素：病例对照研究
DOI：
10.18632/oncotarget.12965
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发表时间：
2016-12-13
期刊：
影响因子：
--
通讯作者：
Fu R
中科院分区：
文献类型：
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作者：
Gao J;Wei L;Wei J;Yao G;Wang L;Wang M;Liu X;Dai C;Jin T;Dai Z;Fu R
toll样受体（Toll-like receptor, TLRs）是一类跨膜受体，在识别入侵病原体和激活先天免疫中起着重要作用。先前的研究表明，TLR1单核苷酸多态性（SNPs）可能与IgA肾病（IgAN）的风险相关。本研究旨在探讨中国汉族人群中TLR1 snp （rs4833095和rss5743557）与IgAN的关系。这项病例对照研究包括351名IgAN患者和310名健康对照者。采用Sequenom MassARRAY对TLR1的两个snp （rs4833095和rss5743557）进行基因分型。使用比值比（OR）和95%置信区间（CI）来评估与IgAN的关系。我们发现rs5743557的等位基因和基因型频率与IgAN风险无关。在等位基因、显性和对数加性模型中，Rs4833095与对照相比增加了IgAN风险（P分别= 0.04、0.04和0.03）。进一步的单倍型分析显示Trs4833095Trs5743557单倍型可能是IgAN的危险因素（OR = 1.28; 95% CI = 1.01-1.63; P = 0.046）。此外，rs4833095与Lee's评分相关（OR = 1.75; 95% CI = 1.03-2.96; P = 0.04）。然而，rs5743557基因型分布与IgAN的临床参数（如性别、24小时尿蛋白、血压、Lee’s分级）之间无显著相关性。综上所述，这些发现提示TLR1 rs4833095多态性可能在IgAN的发生和进展中发挥作用。
Toll-like receptors (TLRs) are a family of transmembrane receptors, and play a vital role in recognizing invading pathogens and activating innate immunity. Previous studies indicated that TLR1 single nucleotide polymorphisms (SNPs) might be associated with the risk of IgA nephropathy (IgAN). This study aims to investigate the relationship between TLR1 SNPs (rs4833095 and rs5743557) and IgAN in a Chinese Han population. This case-control study included 351 patients with IgAN and 310 healthy controls. Two SNPs (rs4833095 and rs5743557) of TLR1 were genotyped by Sequenom MassARRAY. Odds ratios (OR) with 95% confidence intervals (CI) were used to assess the relationship with IgAN. We found that both allele and genotype frequencies of rs5743557 were not associated with IgAN risk. Rs4833095 increased IgAN risk compared with controls in the allele, dominant and log-additive models (P = 0.04, 0.04 and 0.03, respectively). Further haplotype analysis revealed that the Trs4833095Trs5743557 haplotype may be a risk factor for IgAN (OR = 1.28; 95% CI = 1.01–1.63; P = 0.046). Furthermore, rs4833095 was associated with Lee's grades (OR = 1.75; 95% CI = 1.03–2.96; P = 0.04). However, there was no significant association between the genotype distributions of rs5743557 and clinical parameters of IgAN such as gender, 24 hour urine protein, blood pressure, and Lee's grades. Taken together, these findings suggest that the TLR1 rs4833095 polymorphism may play a role in the development and progression of IgAN.