<i>TLR1</i> polymorphism rs4833095 as a risk factor for IgA nephropathy in a Chinese Han population: A case-control study

Abstract

// Jie Gao 1, * , Linting Wei 1, * , Jiali Wei 2 , Ganglian Yao 1 , Li Wang 1 , Meng Wang 3 , Xinghan Liu 3 , Cong Dai 3 , Tianbo Jin 4 , Zhijun Dai 3 , Rongguo Fu 1 1 Department of Nephrology, Second Affiliated Hospital of Xi&rsquo;an Jiaotong University, Xi&rsquo;an 710004, China 2 Department of Nephrology, Hainan general hospital, Haikou 570311, China 3 Department of Oncology, Second Affiliated Hospital of Xi&rsquo;an Jiaotong University, Xi&rsquo;an 710004, China 4 National Engineering Research Center for Miniaturized Detection Systems, School of Life Sciences, Northwest University, Xi&rsquo;an 710069, China * These authors have contributed equally to this work Correspondence to: Jie Gao, email: gxej_cn@sina.com Rongguo Fu, email: pipifu@126.com Keywords: toll-like receptor 1, IgAN, single nucleotide polymorphism, susceptibility, case-control study Received: July 25, 2016&nbsp;&nbsp;&nbsp;&nbsp; Accepted: October 12, 2016&nbsp;&nbsp;&nbsp;&nbsp; Published: October 28, 2016 ABSTRACT 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 T rs4833095 T rs5743557 haplotype may be a risk factor for IgAN (OR = 1.28; 95% CI = 1.01&ndash;1.63; P = 0.046). Furthermore, rs4833095 was associated with Lee&rsquo;s grades (OR = 1.75; 95% CI = 1.03&ndash;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&rsquo;s grades. Taken together, these findings suggest that the TLR1 rs4833095 polymorphism may play a role in the development and progression of IgAN.