1. Genetic variations in Toll-like receptors (TLRs 3/7/8) are associated with systemic lupus erythematosus in a Taiwanese population
- Author
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Yeong Jian Jan Wu, Bing Yang, Chin Man Wang, Su-Wei Chang, Tse Chih Chou, Jianming Wu, Jing Chi Lin, Huei Huang Ho, and Ji Yih Chen
- Subjects
Adult ,Male ,medicine.medical_specialty ,Adolescent ,Population ,Taiwan ,Single-nucleotide polymorphism ,Biology ,Polymorphism, Single Nucleotide ,Article ,Immune system ,Internal medicine ,medicine ,SNP ,Humans ,Lupus Erythematosus, Systemic ,Genetic Predisposition to Disease ,Allele ,education ,Genetic Association Studies ,education.field_of_study ,Multidisciplinary ,Haplotype ,Autoantibody ,virus diseases ,TLR7 ,Middle Aged ,Toll-Like Receptor 3 ,Endocrinology ,Genetics, Population ,Haplotypes ,Toll-Like Receptor 7 ,Toll-Like Receptor 8 ,Immunology ,Female - Abstract
Toll-like receptors (TLRs), as innate immunity sensors, play critical roles in immune responses. Six SNPs of TLR3, TLR7, and TLR8 were genotyped to determine their associations with systemic lupus erythematosus (SLE) and clinical manifestations of SLE. TLR7 SNP rs3853839 was independently associated with SLE susceptibility in females (G vs. C: p = 0.0051). TLR7 rs3853839-G (G vs. C: p = 0.0100) and TLR8 rs3764880-G (recessive model: p = 0.0173; additive model: p = 0.0161) were associated with pericardial effusion in females relative to healthy females. Anti-SSA positive cases were more likely to have the dominant TLR7 rs179010-T allele than normal controls (p = 0.0435). TLR3 rs3775296-T was associated with photosensitivity (p = 0.0020) and anemia (p = 0.0082). The "G-G" haplotype of TLR7 rs3853839 and TLR8 rs3764880 increased risk of SLE in females (age adjusted p = 0.0032). These findings suggest that TLR variations that modify gene expression affect risk for SLE susceptibility, clinical phenotype development, and production of autoantibodies.
- Published
- 2014