title: The TLR7 7926A>G polymorphism is associated with susceptibility to             systemic lupus erythematosus.
abstract: Systemic lupus erythematosus (SLE) is a systemic autoimmune disorder that predominantly affects women of childbearing age, with a female-to-male ratio of approximately 9:1. Previous findings indicated that male cases of SLE were associated with Klinefelter's syndrome (47, XXY), whereas females with Turner's syndrome (45, X0) did not contract SLE. Additionally, duplicated Toll-like receptor 7 (TLR7) was found to promote lupus-like disease. Consequently, the aim of this study was to evaluate whether the TLR7 gene served as a genetic marker for the development of SLE. A case-control study was performed on one tag single nucleotide polymorphism TLR7 rs1634323 in a population with 507 SLE patients and 513 healthy controls. Genotyping was determined by the TaqMan genotyping assay using the ABI 7300 real-time reverse transcription polymerase chain reaction system. The results showed a significantly elevated risk of SLE with the rs1634323 AG genotype in females (P = 0.040, OR = 1.897, 95% CI 1.031-3.491), whereas a similar association was not replicated in males (P = 0.303, OR = 0.338, 95% CI 0.043-2.656). In a subgroup analysis by clinical manifestation of lupus nephritis, no significant differences were found. These findings indicate that the TLR7 gene rs1634323 polymorphism may contribute to SLE susceptibility in females.
authors.affiliation: Department of Epidemiology and Biostatistics, School of Public Health, Anhui Medical University, Hefei, Anhui 230032, PR China.
authors.forename: Jing
authors.initials: J
authors.lastname: Tian
authors.forename: Yan
authors.initials: Y
authors.lastname: Ma
authors.forename: Jing
authors.initials: J
authors.lastname: Li
authors.forename: Han
authors.initials: H
authors.lastname: Cen
authors.forename: De-Guang
authors.initials: DG
authors.lastname: Wang
authors.forename: Chen-Chen
authors.initials: CC
authors.lastname: Feng
authors.forename: Ruo-Jie
authors.initials: RJ
authors.lastname: Li
authors.forename: Rui-Xue
authors.initials: RX
authors.lastname: Leng
authors.forename: Hai-Feng
authors.initials: HF
authors.lastname: Pan
authors.forename: Dong-Qing
authors.initials: DQ
authors.lastname: Ye
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000483:Alleles; D016022:Case-Control Studies; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008180:Lupus Erythematosus, Systemic / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D012737:Sex Factors; D051199:Toll-Like Receptor 7 / Q000235:genetics*; D055815:Young Adult
chemical_list: D051199:Toll-Like Receptor 7