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Sci Rep. 2014 Jan 21;4:3792. doi: 10.1038/srep03792.

Genetic variations in Toll-like receptors (TLRs 3/7/8) are associated with systemic lupus erythematosus in a Taiwanese population.

Author information

1
1] Department of Physical Medicine and Rehabilitation, Chang Gung Memorial Hospital, Chang Gung University, College of Medicine, No. 5, Fu-Shin St. Kwei-Shan, Tao-Yuan, 33375 Taiwan [2].
2
1] Clinical Informatics and Medical Statistics Research Center, Chang Gung University, College of Medicine, 259 Wenhua 1st Road, Kwei-Shan, Tao-Yuan, 33375 Taiwan [2].
3
Department of Medicine, Division of Allergy, Immunology and Rheumatology, Chang Gung Memorial Hospital, Chang Gung University, College of Medicine, No. 5, Fu-Shin St. Kwei-Shan, Tao-Yuan, 33375 Taiwan.
4
Clinical Informatics and Medical Statistics Research Center, Chang Gung University, College of Medicine, 259 Wenhua 1st Road, Kwei-Shan, Tao-Yuan, 33375 Taiwan.
5
Xin-Jhu Blood Center, Taiwan Blood Services Foundation. No.8, Ln.215, Guang Ming 11th Rd., Jhubei City, Xin-Jhu County 30269, Taiwan.
6
Deptartment of Veterinary and Biomedical Sciences, 235B Animal Science/Vet. Med. Bldg., University of Minnesota, 1988 Fitch Avenue, St. Paul, MN 55108, USA.

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.

PMID:
24445780
PMCID:
PMC3896912
DOI:
10.1038/srep03792
[Indexed for MEDLINE]
Free PMC Article

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